nsv1346038
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- 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: 2161 SVs from 95 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: 2736 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1054 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1346038 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
nsv1346038 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,303,646 | 62,514,383 |
nsv1346038 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nsv1346038 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
nsv1346038 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,747,897 | 61,974,761 |
nsv1346038 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,385,332 | 61,612,196 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv7833675 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv7833675 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( ?_62303646)_(62514 383_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
nssv7833675 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( ?_62303646)_(62514 383_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nssv7833675 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( ?_62303646)_(62514 383_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,303,646 | 62,514,383 |
nssv7833675 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( ?_62303646)_(62514 383_?)delNC_000007 .14:g.(?_61578038) _(62376239_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
nssv7833675 | Remapped | Perfect | NC_000007.13:g.(?_ 61747897)_(6197476 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,747,897 | 61,974,761 |
nssv7833675 | Submitted genomic | NC_000007.12:g.(?_ 61385332)_(6161219 6_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,385,332 | 61,612,196 |