nsv3924496
- 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:32,225,862
- Description:GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)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: 108254 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 108289 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 28598 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 |
|---|---|---|---|---|---|---|---|
| nsv3924496 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 22,149 | 32,248,010 |
| nsv3924496 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 22,149 | 32,248,116 |
| nsv3924496 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 75,149 | 32,283,873 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148058 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135668.6, VCV000146365.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148058 | Submitted genomic | NC_000005.10:g.(?_ 22149)_(32248010_? )del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 22,149 | 32,248,010 |
| nssv15148058 | Submitted genomic | NC_000005.9:g.(?_2 2149)_(32248116_?) del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 22,149 | 32,248,116 |
| nssv15148058 | Submitted genomic | NC_000005.8:g.(?_7 5149)_(32283873_?) del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 75,149 | 32,283,873 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148058 | GRCh37: NC_000005.9:g.(?_22149)_(32248116_?)del, GRCh38: NC_000005.10:g.(?_22149)_(32248010_?)del, NCBI36: NC_000005.8:g.(?_75149)_(32283873_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135668.6, VCV000146365.2 | 1 |