nsv932977
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:928
- Publication(s):Boone 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: 165 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv932977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,818,231 | 46,819,158 |
| nsv932977 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,337,671 | 1,338,598 |
| nsv932977 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,803,958 | 1,804,885 |
| nsv932977 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 44,895,597 | 44,896,524 |
| nsv932977 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_9 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | 1,662,794 | 1,663,721 |
| nsv932977 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,250,596 | 42,251,523 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1613062 | deletion | 617 | Oligo aCGH | Probe signal intensity | nssv1615121, nssv1616456, nssv1614634 |
| nssv1614200 | deletion | 1166 | Oligo aCGH | Probe signal intensity | |
| nssv1615264 | deletion | 1569 | Oligo aCGH | Probe signal intensity | |
| nssv1615906 | deletion | 1100 | Oligo aCGH | Probe signal intensity | nssv1615433, nssv1614396 |
| nssv1615982 | deletion | 1311 | Oligo aCGH | Probe signal intensity | nssv1615277, nssv1613108 |
| nssv1616121 | deletion | 452 | Oligo aCGH | Probe signal intensity | |
| nssv1616172 | deletion | 2262 | Oligo aCGH | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1613062 | Remapped | Good | NT_187663.1:g.(132 6586_1326586)_(134 3972_1343972)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,326,586 | 1,326,586 | 1,343,972 | 1,343,972 |
| nssv1614200 | Remapped | Good | NT_187663.1:g.(132 6586_1326586)_(134 3972_1343972)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,326,586 | 1,326,586 | 1,343,972 | 1,343,972 |
| nssv1615264 | Remapped | Good | NT_187663.1:g.(132 6586_1326586)_(134 3972_1343972)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,326,586 | 1,326,586 | 1,343,972 | 1,343,972 |
| nssv1615906 | Remapped | Good | NT_187663.1:g.(132 6586_1326586)_(134 3972_1343972)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,326,586 | 1,326,586 | 1,343,972 | 1,343,972 |
| nssv1615982 | Remapped | Good | NT_187663.1:g.(132 6586_1326586)_(134 3972_1343972)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,326,586 | 1,326,586 | 1,343,972 | 1,343,972 |
| nssv1616121 | Remapped | Good | NT_187663.1:g.(132 6586_1326586)_(134 3972_1343972)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,326,586 | 1,326,586 | 1,343,972 | 1,343,972 |
| nssv1616172 | Remapped | Good | NT_187663.1:g.(132 6586_1326586)_(134 3972_1343972)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,326,586 | 1,326,586 | 1,343,972 | 1,343,972 |
| nssv1613062 | Remapped | Perfect | NT_167251.2:g.(179 3060_1803958)_(180 4885_1810276)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,793,060 | 1,803,958 | 1,804,885 | 1,810,276 |
| nssv1614200 | Remapped | Perfect | NT_167251.2:g.(179 3060_1803958)_(180 4885_1810276)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,793,060 | 1,803,958 | 1,804,885 | 1,810,276 |
| nssv1615264 | Remapped | Perfect | NT_167251.2:g.(179 3060_1803958)_(180 4885_1810276)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,793,060 | 1,803,958 | 1,804,885 | 1,810,276 |
| nssv1615906 | Remapped | Perfect | NT_167251.2:g.(179 3060_1803958)_(180 4885_1810276)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,793,060 | 1,803,958 | 1,804,885 | 1,810,276 |
| nssv1615982 | Remapped | Perfect | NT_167251.2:g.(179 3060_1803958)_(180 4885_1810276)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,793,060 | 1,803,958 | 1,804,885 | 1,810,276 |
| nssv1616121 | Remapped | Perfect | NT_167251.2:g.(179 3060_1803958)_(180 4885_1810276)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,793,060 | 1,803,958 | 1,804,885 | 1,810,276 |
| nssv1616172 | Remapped | Perfect | NT_167251.2:g.(179 3060_1803958)_(180 4885_1810276)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,793,060 | 1,803,958 | 1,804,885 | 1,810,276 |
| nssv1613062 | Remapped | Good | NC_000017.11:g.(46 807168_46807168)_( 46824549_46824549) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,807,168 | 46,807,168 | 46,824,549 | 46,824,549 |
| nssv1614200 | Remapped | Good | NC_000017.11:g.(46 807168_46807168)_( 46824549_46824549) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,807,168 | 46,807,168 | 46,824,549 | 46,824,549 |
| nssv1615264 | Remapped | Good | NC_000017.11:g.(46 807168_46807168)_( 46824549_46824549) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,807,168 | 46,807,168 | 46,824,549 | 46,824,549 |
| nssv1615906 | Remapped | Good | NC_000017.11:g.(46 807168_46807168)_( 46824549_46824549) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,807,168 | 46,807,168 | 46,824,549 | 46,824,549 |
| nssv1615982 | Remapped | Good | NC_000017.11:g.(46 807168_46807168)_( 46824549_46824549) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,807,168 | 46,807,168 | 46,824,549 | 46,824,549 |
| nssv1616121 | Remapped | Good | NC_000017.11:g.(46 807168_46807168)_( 46824549_46824549) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,807,168 | 46,807,168 | 46,824,549 | 46,824,549 |
| nssv1616172 | Remapped | Good | NC_000017.11:g.(46 807168_46807168)_( 46824549_46824549) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,807,168 | 46,807,168 | 46,824,549 | 46,824,549 |
| nssv1613062 | Remapped | Pass | NT_167251.1:g.(?_1 656769)_(1663721_1 669112)del | GRCh37.p13 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | - | 1,656,769 | 1,663,721 | 1,669,112 |
| nssv1614200 | Remapped | Pass | NT_167251.1:g.(?_1 656769)_(1663721_1 669112)del | GRCh37.p13 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | - | 1,656,769 | 1,663,721 | 1,669,112 |
| nssv1615264 | Remapped | Pass | NT_167251.1:g.(?_1 656769)_(1663721_1 669112)del | GRCh37.p13 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | - | 1,656,769 | 1,663,721 | 1,669,112 |
| nssv1615906 | Remapped | Pass | NT_167251.1:g.(?_1 656769)_(1663721_1 669112)del | GRCh37.p13 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | - | 1,656,769 | 1,663,721 | 1,669,112 |
| nssv1615982 | Remapped | Pass | NT_167251.1:g.(?_1 656769)_(1663721_1 669112)del | GRCh37.p13 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | - | 1,656,769 | 1,663,721 | 1,669,112 |
| nssv1616121 | Remapped | Pass | NT_167251.1:g.(?_1 656769)_(1663721_1 669112)del | GRCh37.p13 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | - | 1,656,769 | 1,663,721 | 1,669,112 |
| nssv1616172 | Remapped | Pass | NT_167251.1:g.(?_1 656769)_(1663721_1 669112)del | GRCh37.p13 | Second Pass | NT_167251.1 | Chr17|NT_1 67251.1 | - | 1,656,769 | 1,663,721 | 1,669,112 |
| nssv1613062 | Remapped | Pass | NC_000017.10:g.(?_ 44889572)_(4489652 4_44901915)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | - | 44,889,572 | 44,896,524 | 44,901,915 |
| nssv1614200 | Remapped | Pass | NC_000017.10:g.(?_ 44889572)_(4489652 4_44901915)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | - | 44,889,572 | 44,896,524 | 44,901,915 |
| nssv1615264 | Remapped | Pass | NC_000017.10:g.(?_ 44889572)_(4489652 4_44901915)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | - | 44,889,572 | 44,896,524 | 44,901,915 |
| nssv1615906 | Remapped | Pass | NC_000017.10:g.(?_ 44889572)_(4489652 4_44901915)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | - | 44,889,572 | 44,896,524 | 44,901,915 |
| nssv1615982 | Remapped | Pass | NC_000017.10:g.(?_ 44889572)_(4489652 4_44901915)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | - | 44,889,572 | 44,896,524 | 44,901,915 |
| nssv1616121 | Remapped | Pass | NC_000017.10:g.(?_ 44889572)_(4489652 4_44901915)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | - | 44,889,572 | 44,896,524 | 44,901,915 |
| nssv1616172 | Remapped | Pass | NC_000017.10:g.(?_ 44889572)_(4489652 4_44901915)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | - | 44,889,572 | 44,896,524 | 44,901,915 |
| nssv1613062 | Submitted genomic | NC_000017.9:g.(422 39698_42250596)_(4 2251523_42256914)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,239,698 | 42,250,596 | 42,251,523 | 42,256,914 | ||
| nssv1614200 | Submitted genomic | NC_000017.9:g.(422 39698_42250596)_(4 2251523_42256914)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,239,698 | 42,250,596 | 42,251,523 | 42,256,914 | ||
| nssv1615264 | Submitted genomic | NC_000017.9:g.(422 39698_42250596)_(4 2251523_42256914)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,239,698 | 42,250,596 | 42,251,523 | 42,256,914 | ||
| nssv1615906 | Submitted genomic | NC_000017.9:g.(422 39698_42250596)_(4 2251523_42256914)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,239,698 | 42,250,596 | 42,251,523 | 42,256,914 | ||
| nssv1615982 | Submitted genomic | NC_000017.9:g.(422 39698_42250596)_(4 2251523_42256914)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,239,698 | 42,250,596 | 42,251,523 | 42,256,914 | ||
| nssv1616121 | Submitted genomic | NC_000017.9:g.(422 39698_42250596)_(4 2251523_42256914)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,239,698 | 42,250,596 | 42,251,523 | 42,256,914 | ||
| nssv1616172 | Submitted genomic | NC_000017.9:g.(422 39698_42250596)_(4 2251523_42256914)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,239,698 | 42,250,596 | 42,251,523 | 42,256,914 |