nsv6637472
- 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:92,856
- Description:GRCh37/hg19 16q23.1(chr16:75164013-75256868)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: 477 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 477 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637472 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 75,130,115 | 75,222,970 |
| nsv6637472 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654723.1 | Chr16|NW_0 18654723.1 | 1 | 53,168 |
| nsv6637472 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 75,164,013 | 75,256,868 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329531 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472465.1, VCV001807659.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329531 | Remapped | Pass | NW_018654723.1:g.( ?_1)_(53168_?)del | GRCh38.p12 | Second Pass | NW_018654723.1 | Chr16|NW_0 18654723.1 | 1 | 53,168 |
| nssv18329531 | Remapped | Perfect | NC_000016.10:g.(?_ 75130115)_(7522297 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,130,115 | 75,222,970 |
| nssv18329531 | Submitted genomic | NC_000016.9:g.(?_7 5164013)_(75256868 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,164,013 | 75,256,868 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329531 | GRCh37: NC_000016.9:g.(?_75164013)_(75256868_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472465.1, VCV001807659.1 | 1 |