nsv3914262
- 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:10,997,151
- Description:GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)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: 25709 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 25703 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 6392 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914262 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 62,230,636 | 73,227,786 |
| nsv3914262 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 63,143,195 | 74,140,021 |
| nsv3914262 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 63,305,749 | 74,302,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161754 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054242.5, VCV000060364.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161754 | Submitted genomic | NC_000008.11:g.(?_ 62230636)_(7322778 6_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 62,230,636 | 73,227,786 |
| nssv15161754 | Submitted genomic | NC_000008.10:g.(?_ 63143195)_(7414002 1_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,143,195 | 74,140,021 |
| nssv15161754 | Submitted genomic | NC_000008.9:g.(?_6 3305749)_(74302575 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 63,305,749 | 74,302,575 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161754 | GRCh37: NC_000008.10:g.(?_63143195)_(74140021_?)del, GRCh38: NC_000008.11:g.(?_62230636)_(73227786_?)del, NCBI36: NC_000008.9:g.(?_63305749)_(74302575_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054242.5, VCV000060364.1 | 1 |