nsv3915973
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:137,965,662
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 326444 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 193515 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 48721 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 |
|---|---|---|---|---|---|---|---|
| nsv3915973 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 193,412 | 138,159,073 |
| nsv3915973 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 68,420,641 | 141,053,525 |
| nsv3915973 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 67,910,461 | 140,173,346 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145918 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138962.8, VCV000150050.2 | 3 |
| nssv15147428 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139207.6, VCV000150340.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145918 | Submitted genomic | NC_000009.12:g.(?_ 193412)_(138159073 _?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 193,412 | 138,159,073 |
| nssv15147428 | Submitted genomic | NC_000009.12:g.(?_ 193412)_(138159073 _?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 193,412 | 138,159,073 |
| nssv15145918 | Submitted genomic | NC_000009.11:g.(?_ 204104)_(141053525 _?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 204,104 | 141,053,525 |
| nssv15147428 | Submitted genomic | NC_000009.11:g.(?_ 68420641)_(1410535 25_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,420,641 | 141,053,525 |
| nssv15145918 | Submitted genomic | NC_000009.10:g.(?_ 194104)_(140173346 _?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 194,104 | 140,173,346 |
| nssv15147428 | Submitted genomic | NC_000009.10:g.(?_ 67910461)_(1401733 46_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 67,910,461 | 140,173,346 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145918 | GRCh37: NC_000009.11:g.(?_204104)_(141053525_?)dup, GRCh38: NC_000009.12:g.(?_193412)_(138159073_?)dup, NCBI36: NC_000009.10:g.(?_194104)_(140173346_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138962.8, VCV000150050.2 | 3 |
| nssv15147428 | GRCh37: NC_000009.11:g.(?_68420641)_(141053525_?)dup, GRCh38: NC_000009.12:g.(?_193412)_(138159073_?)dup, NCBI36: NC_000009.10:g.(?_67910461)_(140173346_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139207.6, VCV000150340.2 | 3 |