nsv3916438
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:93,254,155
- Description:GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 230532 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 230558 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 57469 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3916438 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 46,031,340 | 139,285,494 |
nsv3916438 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 46,942,962 | 140,297,737 |
nsv3916438 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 47,062,127 | 140,366,919 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15161797 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139539.5, VCV000150723.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15161797 | Submitted genomic | NC_000008.11:g.(?_ 46031340)_(1392854 94_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 46,031,340 | 139,285,494 |
nssv15161797 | Submitted genomic | NC_000008.10:g.(?_ 46942962)_(1402977 37_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 46,942,962 | 140,297,737 |
nssv15161797 | Submitted genomic | NC_000008.9:g.(?_4 7062127)_(14036691 9_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 47,062,127 | 140,366,919 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15161797 | GRCh37: NC_000008.10:g.(?_46942962)_(140297737_?)dup, GRCh38: NC_000008.11:g.(?_46031340)_(139285494_?)dup, NCBI36: NC_000008.9:g.(?_47062127)_(140366919_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139539.5, VCV000150723.2 | 3 |