nsv3923176
- 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:38,853,283
- Description:GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)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: 113522 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 102954 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 28858 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923176 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 7,817,158 | 46,670,440 |
| nsv3923176 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,485,038 | 48,090,352 |
| nsv3923176 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 14,406,909 | 46,914,780 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148957 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142427.5, VCV000154360.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148957 | Submitted genomic | NC_000021.9:g.(?_7 817158)_(46670440_ ?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,817,158 | 46,670,440 |
| nssv15148957 | Submitted genomic | NC_000021.8:g.(?_1 5485038)_(48090352 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,485,038 | 48,090,352 |
| nssv15148957 | Submitted genomic | NC_000021.7:g.(?_1 4406909)_(46914780 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 14,406,909 | 46,914,780 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148957 | GRCh37: NC_000021.8:g.(?_15485038)_(48090352_?)del, GRCh38: NC_000021.9:g.(?_7817158)_(46670440_?)del, NCBI36: NC_000021.7:g.(?_14406909)_(46914780_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142427.5, VCV000154360.2 | 1 |