nsv1346361
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- 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: 1134 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1565 SVs from 89 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: 1994 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 931 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1346361 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nsv1346361 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,351,633 | 62,516,366 |
nsv1346361 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
nsv1346361 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,795,884 | 61,976,744 |
nsv1346361 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,433,319 | 61,614,179 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv7833685 | copy number loss | SNP array | Probe signal intensity |
nssv8340966 | copy number gain | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv7833685 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62351633) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nssv8340966 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d upNC_000007.14:g.( ?_62351633)_(62516 366_?)dupNC_000007 .14:g.(?_62180400) _(62294432_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nssv7833685 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62351633) _(62516366_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,351,633 | 62,516,366 |
nssv8340966 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d upNC_000007.14:g.( ?_62351633)_(62516 366_?)dupNC_000007 .14:g.(?_62180400) _(62294432_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,351,633 | 62,516,366 |
nssv7833685 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d elNC_000007.14:g.( ?_62180400)_(62294 432_?)delNC_000007 .14:g.(?_62351633) _(62516366_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
nssv8340966 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610822_?)d upNC_000007.14:g.( ?_62351633)_(62516 366_?)dupNC_000007 .14:g.(?_62180400) _(62294432_?)dup | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,933 | 610,822 |
nssv7833685 | Remapped | Perfect | NC_000007.13:g.(?_ 61795884)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,795,884 | 61,976,744 |
nssv8340966 | Remapped | Perfect | NC_000007.13:g.(?_ 61795884)_(6197674 4_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,795,884 | 61,976,744 |
nssv7833685 | Submitted genomic | NC_000007.12:g.(?_ 61433319)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,433,319 | 61,614,179 | ||
nssv8340966 | Submitted genomic | NC_000007.12:g.(?_ 61433319)_(6161417 9_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,433,319 | 61,614,179 |