nsv3875730
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:143,911
- Description:Single allele AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 483 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 483 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3875730 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 46,560,512 | 46,704,422 |
| nsv3875730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 46,582,062 | 46,725,972 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151665 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000677957.2, VCV000560080.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15151665 | Submitted genomic | NC_000011.10:g.465 60512_46704422del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 46,560,512 | 46,704,422 |
| nssv15151665 | Submitted genomic | NC_000011.9:g.4658 2062_46725972del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 46,582,062 | 46,725,972 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151665 | GRCh37: NC_000011.9:g.46582062_46725972del, GRCh38: NC_000011.10:g.46560512_46704422del | deletion | maternal | not provided | Uncertain significance | ClinVar | RCV000677957.2, VCV000560080.2 | 1 |