nsv6291634
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,024,235
- Description:GRCh38/hg38 1q32.3(chr1:212337801-213362035) AND Diaphragmatic hernia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2721 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2725 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291634 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 212,337,801 | 213,362,035 | ||
| nsv6291634 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 212,511,143 | 213,535,378 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956504 | copy number loss | Multiple | Multiple | Congenital diaphragmatic hernia; Diaphragmatic hernia; Hernia, Diaphragmatic | Uncertain significance | ClinVar | RCV001823066.1, VCV001338832.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956504 | Submitted genomic | NC_000001.11:g.(?_ 212337801)_(213362 035_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 212,337,801 | 213,362,035 | ||
| nssv17956504 | Remapped | Perfect | NC_000001.10:g.(?_ 212511143)_(213535 378_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 212,511,143 | 213,535,378 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17956504 | GRCh38: NC_000001.11:g.(?_212337801)_(213362035_?)del | copy number loss | de novo | Congenital diaphragmatic hernia; Diaphragmatic hernia; Hernia, Diaphragmatic | Uncertain significance | ClinVar | RCV001823066.1, VCV001338832.1 |