nsv3914200
- 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:536,255
- Description:
GRCh38/hg38 8p22(chr8:15814811-16351065)x3 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: 2359 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2359 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 671 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914200 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 15,814,811 | 16,351,065 |
| nsv3914200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 15,672,320 | 16,208,574 |
| nsv3914200 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 15,716,691 | 16,252,945 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136957 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000139145.4, VCV000150262.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136957 | Submitted genomic | NC_000008.11:g.(?_ 15814811)_(1635106 5_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 15,814,811 | 16,351,065 |
| nssv15136957 | Submitted genomic | NC_000008.10:g.(?_ 15672320)_(1620857 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 15,672,320 | 16,208,574 |
| nssv15136957 | Submitted genomic | NC_000008.9:g.(?_1 5716691)_(16252945 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 15,716,691 | 16,252,945 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136957 | GRCh37: NC_000008.10:g.(?_15672320)_(16208574_?)dup, GRCh38: NC_000008.11:g.(?_15814811)_(16351065_?)dup, NCBI36: NC_000008.9:g.(?_15716691)_(16252945_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000139145.4, VCV000150262.2 | 3 |