nsv932802
- Organism: Homo sapiens
- Study:nstd79 (Dittwald et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,244,541
- Publication(s):Dittwald et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12852 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 4672 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 12845 SVs from 133 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv932802 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 14,678,414 | 14,678,414 | 18,922,954 | 18,922,954 |
| nsv932802 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 251,273 | 251,273 | 2,659,700 | - |
| nsv932802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 14,772,271 | 15,511,710 | 18,167,401 | 18,934,276 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1612125 | deletion | 311 | Oligo aCGH | Probe signal intensity | |
| nssv1610982 | duplication | 1080 | Oligo aCGH | Probe signal intensity | |
| nssv1610684 | deletion | 2042 | Oligo aCGH | Probe signal intensity | |
| nssv1611334 | duplication | 2120 | Oligo aCGH | Probe signal intensity | |
| nssv1611827 | duplication | 1262 | Oligo aCGH | Probe signal intensity | |
| nssv1612342 | duplication | 1705 | Oligo aCGH | Probe signal intensity | |
| nssv1612356 | deletion | 1587 | Oligo aCGH | Probe signal intensity | nssv1612745 |
| nssv1612399 | duplication | 587 | Oligo aCGH | Probe signal intensity | |
| nssv1610803 | deletion | 1833 | Oligo aCGH | Probe signal intensity | |
| nssv1612597 | deletion | 1821 | Oligo aCGH | Probe signal intensity | |
| nssv1611107 | duplication | 1239 | Oligo aCGH | Probe signal intensity | |
| nssv1611418 | duplication | 1063 | Oligo aCGH | Probe signal intensity | nssv1612417 |
| nssv1611551 | deletion | 1114 | Oligo aCGH | Probe signal intensity | |
| nssv1611676 | duplication | 1365 | Oligo aCGH | Probe signal intensity | nssv1611035 |
| nssv1611975 | duplication | 1102 | Oligo aCGH | Probe signal intensity | nssv1612674 |
| nssv1612676 | deletion | 995 | Oligo aCGH | Probe signal intensity | |
| nssv1612740 | duplication | 980 | Oligo aCGH | Probe signal intensity | nssv1611782 |
| nssv1610859 | duplication | 460 | Oligo aCGH | Probe signal intensity | |
| nssv1612259 | duplication | 598 | Oligo aCGH | Probe signal intensity | |
| nssv1612826 | deletion | 669 | Oligo aCGH | Probe signal intensity | |
| nssv1610743 | deletion | 636 | Oligo aCGH | Probe signal intensity | |
| nssv1612673 | duplication | 548 | Oligo aCGH | Probe signal intensity | |
| nssv1611302 | duplication | 584 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1612125 | Remapped | Pass | NT_187607.1:g.(998 47_99847)_(2659700 _?)del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 99,847 | 99,847 | 2,659,700 | - |
| nssv1610982 | Remapped | Pass | NT_187607.1:g.(241 416_241416)_(26597 00_?)dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 241,416 | 241,416 | 2,659,700 | - |
| nssv1610684 | Remapped | Pass | NT_187607.1:g.(?_1 015619)_(2659700_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nssv1611334 | Remapped | Pass | NT_187607.1:g.(?_1 015619)_(2659700_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nssv1611827 | Remapped | Pass | NT_187607.1:g.(?_1 015619)_(2659700_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nssv1612342 | Remapped | Pass | NT_187607.1:g.(?_1 015619)_(2659700_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nssv1612356 | Remapped | Pass | NT_187607.1:g.(?_1 015619)_(2659700_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nssv1612399 | Remapped | Pass | NT_187607.1:g.(?_1 015619)_(2659700_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nssv1610803 | Remapped | Pass | NT_187607.1:g.(107 6693_1076693)_(265 9700_?)del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,076,693 | 1,076,693 | 2,659,700 | - |
| nssv1612597 | Remapped | Pass | NT_187607.1:g.(107 6693_1076693)_(265 9700_?)del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,076,693 | 1,076,693 | 2,659,700 | - |
| nssv1612125 | Remapped | Good | NC_000016.10:g.(14 526990_14526990)_( 19148915_19148915) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,526,990 | 14,526,990 | 19,148,915 | 19,148,915 |
| nssv1610982 | Remapped | Good | NC_000016.10:g.(14 668558_14668558)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,668,558 | 14,668,558 | 18,783,124 | 18,783,124 |
| nssv1611334 | Remapped | Perfect | NC_000016.10:g.(15 032911_15060830)_( 17710509_17961640) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,032,911 | 15,060,830 | 17,710,509 | 17,961,640 |
| nssv1611827 | Remapped | Perfect | NC_000016.10:g.(15 060889_15427856)_( 17710509_17961638) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,427,856 | 17,710,509 | 17,961,638 |
| nssv1612342 | Remapped | Perfect | NC_000016.10:g.(15 060889_15427856)_( 17710509_17961638) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,427,856 | 17,710,509 | 17,961,638 |
| nssv1611107 | Remapped | Good | NC_000016.10:g.(15 060889_15060889)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,060,889 | 18,783,124 | 18,783,124 |
| nssv1611418 | Remapped | Good | NC_000016.10:g.(15 060889_15060889)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,060,889 | 18,783,124 | 18,783,124 |
| nssv1611551 | Remapped | Good | NC_000016.10:g.(15 060889_15060889)_( 18783124_18783124) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,060,889 | 18,783,124 | 18,783,124 |
| nssv1611676 | Remapped | Good | NC_000016.10:g.(15 060889_15060889)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,060,889 | 18,783,124 | 18,783,124 |
| nssv1611975 | Remapped | Good | NC_000016.10:g.(15 060889_15060889)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,060,889 | 18,783,124 | 18,783,124 |
| nssv1612676 | Remapped | Good | NC_000016.10:g.(15 060889_15060889)_( 18783124_18783124) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,060,889 | 18,783,124 | 18,783,124 |
| nssv1612740 | Remapped | Good | NC_000016.10:g.(15 060889_15060889)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,060,889 | 15,060,889 | 18,783,124 | 18,783,124 |
| nssv1610684 | Remapped | Perfect | NC_000016.10:g.(15 073084_15427856)_( 17760622_17961640) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,073,084 | 15,427,856 | 17,760,622 | 17,961,640 |
| nssv1612356 | Remapped | Perfect | NC_000016.10:g.(15 073084_15427856)_( 17760622_17961640) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,073,084 | 15,427,856 | 17,760,622 | 17,961,640 |
| nssv1612399 | Remapped | Perfect | NC_000016.10:g.(15 128257_15400763)_( 17582147_17961638) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,128,257 | 15,400,763 | 17,582,147 | 17,961,638 |
| nssv1610859 | Remapped | Good | NC_000016.10:g.(15 128257_15128257)_( 18597311_18597311) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,128,257 | 15,128,257 | 18,597,311 | 18,597,311 |
| nssv1612259 | Remapped | Good | NC_000016.10:g.(15 128257_15128257)_( 18597311_18597311) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,128,257 | 15,128,257 | 18,597,311 | 18,597,311 |
| nssv1612826 | Remapped | Good | NC_000016.10:g.(15 128257_15128257)_( 18597311_18597311) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,128,257 | 15,128,257 | 18,597,311 | 18,597,311 |
| nssv1610743 | Remapped | Good | NC_000016.10:g.(15 128257_15128257)_( 18783124_18783124) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,128,257 | 15,128,257 | 18,783,124 | 18,783,124 |
| nssv1612673 | Remapped | Good | NC_000016.10:g.(15 128257_15128257)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,128,257 | 15,128,257 | 18,783,124 | 18,783,124 |
| nssv1610803 | Remapped | Perfect | NC_000016.10:g.(15 418718_15427856)_( 17961699_18005450) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,418,718 | 15,427,856 | 17,961,699 | 18,005,450 |
| nssv1612597 | Remapped | Perfect | NC_000016.10:g.(15 418718_15427856)_( 17961699_18005450) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,418,718 | 15,427,856 | 17,961,699 | 18,005,450 |
| nssv1611302 | Remapped | Good | NC_000016.10:g.(15 424666_15424666)_( 18783124_18783124) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,424,666 | 15,424,666 | 18,783,124 | 18,783,124 |
| nssv1612125 | Remapped | Perfect | NC_000016.9:g.(146 20847_15518464)_(1 7676004_19160237)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 14,620,847 | 15,518,464 | 17,676,004 | 19,160,237 |
| nssv1610982 | Remapped | Perfect | NC_000016.9:g.(147 62415_15126709)_(1 8055556_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 14,762,415 | 15,126,709 | 18,055,556 | 18,794,446 |
| nssv1611827 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 7804366_18055495)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 17,804,366 | 18,055,495 |
| nssv1612342 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 7804366_18055495)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 17,804,366 | 18,055,495 |
| nssv1611107 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 8055556_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 18,055,556 | 18,794,446 |
| nssv1611418 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 8055556_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 18,055,556 | 18,794,446 |
| nssv1611551 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 8055556_18794446)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 18,055,556 | 18,794,446 |
| nssv1611676 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 8055556_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 18,055,556 | 18,794,446 |
| nssv1611975 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 8055556_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 18,055,556 | 18,794,446 |
| nssv1612676 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 8055556_18794446)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 18,055,556 | 18,794,446 |
| nssv1612740 | Remapped | Perfect | NC_000016.9:g.(151 54746_15521713)_(1 8055556_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,154,746 | 15,521,713 | 18,055,556 | 18,794,446 |
| nssv1612399 | Remapped | Perfect | NC_000016.9:g.(152 22114_15494620)_(1 7676004_18055495)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,222,114 | 15,494,620 | 17,676,004 | 18,055,495 |
| nssv1610859 | Remapped | Perfect | NC_000016.9:g.(152 22114_15494620)_(1 8055556_18608633)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,222,114 | 15,494,620 | 18,055,556 | 18,608,633 |
| nssv1612259 | Remapped | Perfect | NC_000016.9:g.(152 22114_15494620)_(1 8055556_18608633)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,222,114 | 15,494,620 | 18,055,556 | 18,608,633 |
| nssv1612826 | Remapped | Perfect | NC_000016.9:g.(152 22114_15494620)_(1 8055556_18608633)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,222,114 | 15,494,620 | 18,055,556 | 18,608,633 |
| nssv1610743 | Remapped | Perfect | NC_000016.9:g.(152 22114_15494620)_(1 8608694_18794446)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,222,114 | 15,494,620 | 18,608,694 | 18,794,446 |
| nssv1612673 | Remapped | Perfect | NC_000016.9:g.(152 22114_15494620)_(1 8608694_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,222,114 | 15,494,620 | 18,608,694 | 18,794,446 |
| nssv1611302 | Remapped | Perfect | NC_000016.9:g.(155 18523_15521713)_(1 8608694_18794446)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,518,523 | 15,521,713 | 18,608,694 | 18,794,446 |
| nssv1611334 | Submitted genomic | NC_000016.9:g.(151 26768_15154687)_(1 7804366_18055497)d up | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,126,768 | 15,154,687 | 17,804,366 | 18,055,497 | ||
| nssv1610684 | Submitted genomic | NC_000016.9:g.(151 66941_15521713)_(1 7854479_18055497)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,166,941 | 15,521,713 | 17,854,479 | 18,055,497 | ||
| nssv1612356 | Submitted genomic | NC_000016.9:g.(151 66941_15521713)_(1 7854479_18055497)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,166,941 | 15,521,713 | 17,854,479 | 18,055,497 | ||
| nssv1610803 | Submitted genomic | NC_000016.9:g.(155 12575_15521713)_(1 8055556_18099307)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,512,575 | 15,521,713 | 18,055,556 | 18,099,307 | ||
| nssv1612597 | Submitted genomic | NC_000016.9:g.(155 12575_15521713)_(1 8055556_18099307)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,512,575 | 15,521,713 | 18,055,556 | 18,099,307 | ||
| nssv1612125 | Submitted genomic | NC_000016.8:g.(145 28348_15425965)_(1 7583505_19067738)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 14,528,348 | 15,425,965 | 17,583,505 | 19,067,738 | ||
| nssv1610982 | Submitted genomic | NC_000016.8:g.(146 69916_15034210)_(1 7963057_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 14,669,916 | 15,034,210 | 17,963,057 | 18,701,947 | ||
| nssv1611827 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7711867_17962996)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,711,867 | 17,962,996 | ||
| nssv1612342 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7711867_17962996)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,711,867 | 17,962,996 | ||
| nssv1611107 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7963057_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,963,057 | 18,701,947 | ||
| nssv1611418 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7963057_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,963,057 | 18,701,947 | ||
| nssv1611551 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7963057_18701947)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,963,057 | 18,701,947 | ||
| nssv1611676 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7963057_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,963,057 | 18,701,947 | ||
| nssv1611975 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7963057_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,963,057 | 18,701,947 | ||
| nssv1612676 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7963057_18701947)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,963,057 | 18,701,947 | ||
| nssv1612740 | Submitted genomic | NC_000016.8:g.(150 62247_15429214)_(1 7963057_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,062,247 | 15,429,214 | 17,963,057 | 18,701,947 | ||
| nssv1612399 | Submitted genomic | NC_000016.8:g.(151 29615_15402121)_(1 7583505_17962996)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,129,615 | 15,402,121 | 17,583,505 | 17,962,996 | ||
| nssv1610859 | Submitted genomic | NC_000016.8:g.(151 29615_15402121)_(1 7963057_18516134)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,129,615 | 15,402,121 | 17,963,057 | 18,516,134 | ||
| nssv1612259 | Submitted genomic | NC_000016.8:g.(151 29615_15402121)_(1 7963057_18516134)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,129,615 | 15,402,121 | 17,963,057 | 18,516,134 | ||
| nssv1612826 | Submitted genomic | NC_000016.8:g.(151 29615_15402121)_(1 7963057_18516134)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,129,615 | 15,402,121 | 17,963,057 | 18,516,134 | ||
| nssv1610743 | Submitted genomic | NC_000016.8:g.(151 29615_15402121)_(1 8516195_18701947)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,129,615 | 15,402,121 | 18,516,195 | 18,701,947 | ||
| nssv1612673 | Submitted genomic | NC_000016.8:g.(151 29615_15402121)_(1 8516195_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,129,615 | 15,402,121 | 18,516,195 | 18,701,947 | ||
| nssv1611302 | Submitted genomic | NC_000016.8:g.(154 26024_15429214)_(1 8516195_18701947)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,426,024 | 15,429,214 | 18,516,195 | 18,701,947 |