nsv3911034
- 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:16,694,406
- Description:GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)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: 40463 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 40484 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 9730 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911034 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 78,672,463 | 95,366,868 |
| nsv3911034 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 79,584,698 | 96,379,096 |
| nsv3911034 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 79,747,253 | 96,448,272 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147911 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054262.5, VCV000060380.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147911 | Submitted genomic | NC_000008.11:g.(?_ 78672463)_(9536686 8_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 78,672,463 | 95,366,868 |
| nssv15147911 | Submitted genomic | NC_000008.10:g.(?_ 79584698)_(9637909 6_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 79,584,698 | 96,379,096 |
| nssv15147911 | Submitted genomic | NC_000008.9:g.(?_7 9747253)_(96448272 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 79,747,253 | 96,448,272 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147911 | GRCh37: NC_000008.10:g.(?_79584698)_(96379096_?)del, GRCh38: NC_000008.11:g.(?_78672463)_(95366868_?)del, NCBI36: NC_000008.9:g.(?_79747253)_(96448272_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054262.5, VCV000060380.1 | 1 |