nsv1346278
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:278,890
- Publication(s):Duyzend et al. 2015
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: 1536 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1134 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 1965 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 922 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1346278 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nsv1346278 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nsv1346278 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nsv1346278 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nsv1346278 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7833688 | copy number loss | SNP array | Probe signal intensity |
| nssv7833689 | copy number loss | SNP array | Probe signal intensity |
| nssv7833690 | copy number loss | SNP array | Probe signal intensity |
| nssv7833691 | copy number loss | SNP array | Probe signal intensity |
| nssv7833692 | copy number loss | SNP array | Probe signal intensity |
| nssv8339149 | copy number loss | SNP array | Probe signal intensity |
| nssv8339936 | copy number loss | SNP array | Probe signal intensity |
| nssv8343584 | copy number loss | SNP array | Probe signal intensity |
| nssv8346429 | copy number loss | SNP array | Probe signal intensity |
| nssv8350955 | copy number gain | SNP array | Probe signal intensity |
| nssv8352100 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7833688 | Remapped | Pass | NC_000007.14:g.(?_ 62352890)_(6251636 6_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62180400) _(62294432_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv7833689 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv7833690 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv7833691 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNC_000007.1 4:g.(?_62352890)_( 62516366_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv7833692 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv8339149 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv8339936 | Remapped | Pass | NC_000007.14:g.(?_ 62352890)_(6251636 6_?)delNC_000007.1 4:g.(?_62180400)_( 62294432_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv8343584 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv8346429 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv8350955 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)dupNT_187383.1 :g.(?_331933)_(610 822_?)dupNC_000007 .14:g.(?_62352890) _(62516366_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv8352100 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNC_000007.1 4:g.(?_62352890)_( 62516366_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
| nssv7833688 | Remapped | Pass | NC_000007.14:g.(?_ 62352890)_(6251636 6_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62180400) _(62294432_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv7833689 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv7833690 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv7833691 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNC_000007.1 4:g.(?_62352890)_( 62516366_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv7833692 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv8339149 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv8339936 | Remapped | Pass | NC_000007.14:g.(?_ 62352890)_(6251636 6_?)delNC_000007.1 4:g.(?_62180400)_( 62294432_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv8343584 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv8346429 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv8350955 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)dupNT_187383.1 :g.(?_331933)_(610 822_?)dupNC_000007 .14:g.(?_62352890) _(62516366_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv8352100 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNC_000007.1 4:g.(?_62352890)_( 62516366_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,352,890 | 62,516,366 |
| nssv7833688 | Remapped | Pass | NC_000007.14:g.(?_ 62352890)_(6251636 6_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62180400) _(62294432_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv7833689 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv7833690 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv7833691 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNC_000007.1 4:g.(?_62352890)_( 62516366_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv7833692 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv8339149 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv8339936 | Remapped | Pass | NC_000007.14:g.(?_ 62352890)_(6251636 6_?)delNC_000007.1 4:g.(?_62180400)_( 62294432_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv8343584 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv8346429 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331933)_(610 822_?)delNC_000007 .14:g.(?_62352890) _(62516366_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv8350955 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)dupNT_187383.1 :g.(?_331933)_(610 822_?)dupNC_000007 .14:g.(?_62352890) _(62516366_?)dup | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv8352100 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNC_000007.1 4:g.(?_62352890)_( 62516366_?)delNT_1 87383.1:g.(?_33193 3)_(610822_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
| nssv7833688 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv7833689 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv7833690 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv7833691 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv7833692 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv8339149 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv8339936 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv8343584 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv8346429 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv8350955 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv8352100 | Remapped | Perfect | NC_000007.13:g.(?_ 61797141)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,797,141 | 61,976,744 |
| nssv7833688 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv7833689 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv7833690 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv7833691 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv7833692 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv8339149 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv8339936 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv8343584 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv8346429 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv8350955 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 | ||
| nssv8352100 | Submitted genomic | NC_000007.12:g.(?_ 61434576)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,434,576 | 61,614,179 |