nsv3921099
- 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:830,210
- Description:GRCh38/hg38 9q21.13(chr9:74887986-75718195)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: 2153 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2153 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921099 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 74,887,986 | 75,718,195 |
| nsv3921099 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 77,502,902 | 78,333,111 |
| nsv3921099 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 76,692,722 | 77,522,931 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121174 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000052884.6, VCV000059087.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121174 | Submitted genomic | NC_000009.12:g.(?_ 74887986)_(7571819 5_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 74,887,986 | 75,718,195 |
| nssv15121174 | Submitted genomic | NC_000009.11:g.(?_ 77502902)_(7833311 1_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 77,502,902 | 78,333,111 |
| nssv15121174 | Submitted genomic | NC_000009.10:g.(?_ 76692722)_(7752293 1_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 76,692,722 | 77,522,931 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121174 | GRCh37: NC_000009.11:g.(?_77502902)_(78333111_?)del, GRCh38: NC_000009.12:g.(?_74887986)_(75718195_?)del, NCBI36: NC_000009.10:g.(?_76692722)_(77522931_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV000052884.6, VCV000059087.1 | 1 |