nsv3915174
- 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:15,170,698
- Description:GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 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: 37913 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 37874 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 9894 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915174 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 68,499,530 | 83,670,227 |
| nsv3915174 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 71,130,848 | 86,285,142 |
| nsv3915174 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 70,304,266 | 85,474,962 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135749 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137963.5, VCV000148901.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135749 | Submitted genomic | NC_000009.12:g.(?_ 68499530)_(8367022 7_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 68,499,530 | 83,670,227 |
| nssv15135749 | Submitted genomic | NC_000009.11:g.(?_ 71130848)_(8628514 2_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 71,130,848 | 86,285,142 |
| nssv15135749 | Submitted genomic | NC_000009.10:g.(?_ 70304266)_(8547496 2_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 70,304,266 | 85,474,962 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135749 | GRCh37: NC_000009.11:g.(?_71130848)_(86285142_?)del, GRCh38: NC_000009.12:g.(?_68499530)_(83670227_?)del, NCBI36: NC_000009.10:g.(?_70304266)_(85474962_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137963.5, VCV000148901.2 | 1 |