nsv6634499
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:57
- Description:NM_001371928.1(AHDC1):c.4519_4575del (p.Ser1507_Pro1525del) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 103 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6634499 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 27,547,541 | 27,547,597 |
| nsv6634499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 27,874,052 | 27,874,108 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18326665 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002300947.2, VCV001712775.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18326665 | Submitted genomic | NC_000001.11:g.275 47541_27547597del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 27,547,541 | 27,547,597 |
| nssv18326665 | Submitted genomic | NC_000001.10:g.278 74052_27874108del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 27,874,052 | 27,874,108 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18326665 | GRCh37: NC_000001.10:g.27874052_27874108del, GRCh38: NC_000001.11:g.27547541_27547597del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV002300947.2, VCV001712775.2 |