nsv3922208
- 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:69,675
- Description:
GRCh38/hg38 8p22(chr8:16094502-16164176)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: 576 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 576 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922208 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 16,094,502 | 16,164,176 |
| nsv3922208 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 15,952,011 | 16,021,685 |
| nsv3922208 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 15,996,382 | 16,066,056 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121560 | copy number loss | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134354.4, VCV000144950.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121560 | Submitted genomic | NC_000008.11:g.(?_ 16094502)_(1616417 6_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 16,094,502 | 16,164,176 |
| nssv15121560 | Submitted genomic | NC_000008.10:g.(?_ 15952011)_(1602168 5_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,952,011 | 16,021,685 |
| nssv15121560 | Submitted genomic | NC_000008.9:g.(?_1 5996382)_(16066056 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,996,382 | 16,066,056 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121560 | GRCh37: NC_000008.10:g.(?_15952011)_(16021685_?)del, GRCh38: NC_000008.11:g.(?_16094502)_(16164176_?)del, NCBI36: NC_000008.9:g.(?_15996382)_(16066056_?)del | copy number loss | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134354.4, VCV000144950.1 | 1 |