nsv1344973
- 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:798,202
- 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: 2777 SVs from 101 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: 2062 SVs from 96 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: 2540 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1046 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1344973 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
nsv1344973 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nsv1344973 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,311,893 | 62,516,366 |
nsv1344973 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
nsv1344973 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,756,144 | 61,976,744 |
nsv1344973 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,393,579 | 61,614,179 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv8347735 | copy number loss | SNP array | Probe signal intensity |
nssv8348878 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv8347735 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62311893)_( 62516366_?)delNC_0 00007.14:g.(?_6218 0400)_(62294432_?) delNT_187383.1:g.( ?_331112)_(610898_ ?)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
nssv8348878 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331112)_(610 898_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 311893)_(62516366_ ?)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
nssv8347735 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62311893)_( 62516366_?)delNC_0 00007.14:g.(?_6218 0400)_(62294432_?) delNT_187383.1:g.( ?_331112)_(610898_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nssv8348878 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331112)_(610 898_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 311893)_(62516366_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nssv8347735 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62311893)_( 62516366_?)delNC_0 00007.14:g.(?_6218 0400)_(62294432_?) delNT_187383.1:g.( ?_331112)_(610898_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,311,893 | 62,516,366 |
nssv8348878 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331112)_(610 898_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 311893)_(62516366_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,311,893 | 62,516,366 |
nssv8347735 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62311893)_( 62516366_?)delNC_0 00007.14:g.(?_6218 0400)_(62294432_?) delNT_187383.1:g.( ?_331112)_(610898_ ?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
nssv8348878 | Remapped | Pass | NC_000007.14:g.(?_ 62180400)_(6229443 2_?)delNT_187383.1 :g.(?_331112)_(610 898_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 311893)_(62516366_ ?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
nssv8347735 | Remapped | Perfect | NC_000007.13:g.(?_ 61756144)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,756,144 | 61,976,744 |
nssv8348878 | Remapped | Perfect | NC_000007.13:g.(?_ 61756144)_(6197674 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,756,144 | 61,976,744 |
nssv8347735 | Submitted genomic | NC_000007.12:g.(?_ 61393579)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,393,579 | 61,614,179 | ||
nssv8348878 | Submitted genomic | NC_000007.12:g.(?_ 61393579)_(6161417 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,393,579 | 61,614,179 |