nsv4455708
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:227,922
- Description:GRCh37/hg19 11p15.4(chr11:6754444-6982365)x1 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: 697 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 697 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455708 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 6,733,213 | 6,961,134 |
| nsv4455708 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 6,754,444 | 6,982,365 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15771991 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846230.2, VCV000685522.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15771991 | Remapped | Perfect | NC_000011.10:g.(?_ 6733213)_(6961134_ ?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 6,733,213 | 6,961,134 |
| nssv15771991 | Submitted genomic | NC_000011.9:g.(?_6 754444)_(6982365_? )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 6,754,444 | 6,982,365 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15771991 | GRCh37: NC_000011.9:g.(?_6754444)_(6982365_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846230.2, VCV000685522.2 | 1 |