nsv3908518
- 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:368,554
- Description:GRCh38/hg38 1q31.1(chr1:188236818-188605371)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: 1585 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1585 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 539 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908518 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 188,236,818 | 188,605,371 |
| nsv3908518 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 188,205,949 | 188,574,502 |
| nsv3908518 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 186,472,572 | 186,841,125 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136290 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136957.4, VCV000147829.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136290 | Submitted genomic | NC_000001.11:g.(?_ 188236818)_(188605 371_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 188,236,818 | 188,605,371 |
| nssv15136290 | Submitted genomic | NC_000001.10:g.(?_ 188205949)_(188574 502_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 188,205,949 | 188,574,502 |
| nssv15136290 | Submitted genomic | NC_000001.9:g.(?_1 86472572)_(1868411 25_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 186,472,572 | 186,841,125 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136290 | GRCh37: NC_000001.10:g.(?_188205949)_(188574502_?)del, GRCh38: NC_000001.11:g.(?_188236818)_(188605371_?)del, NCBI36: NC_000001.9:g.(?_186472572)_(186841125_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000136957.4, VCV000147829.2 | 1 |