nsv3924593
- 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:675,721
- Description:GRCh38/hg38 9q34.11(chr9:128236347-128912067)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: 2628 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2628 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 729 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924593 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 128,236,347 | 128,912,067 |
| nsv3924593 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,998,626 | 131,674,346 |
| nsv3924593 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 130,038,447 | 130,714,167 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136906 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138929.5, VCV000150008.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136906 | Submitted genomic | NC_000009.12:g.(?_ 128236347)_(128912 067_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 128,236,347 | 128,912,067 |
| nssv15136906 | Submitted genomic | NC_000009.11:g.(?_ 130998626)_(131674 346_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,998,626 | 131,674,346 |
| nssv15136906 | Submitted genomic | NC_000009.10:g.(?_ 130038447)_(130714 167_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 130,038,447 | 130,714,167 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136906 | GRCh37: NC_000009.11:g.(?_130998626)_(131674346_?)del, GRCh38: NC_000009.12:g.(?_128236347)_(128912067_?)del, NCBI36: NC_000009.10:g.(?_130038447)_(130714167_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138929.5, VCV000150008.2 | 1 |