nsv4674351
- 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:1,232,029
- Description:GRCh37/hg19 3p12.3(chr3:75404228-76636256)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: 6177 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 6263 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674351 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 75,355,077 | 76,587,105 |
| nsv4674351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 75,404,228 | 76,636,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207908 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005447.1, VCV000814457.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207908 | Remapped | Perfect | NC_000003.12:g.(?_ 75355077)_(7658710 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 75,355,077 | 76,587,105 |
| nssv16207908 | Submitted genomic | NC_000003.11:g.(?_ 75404228)_(7663625 6_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 75,404,228 | 76,636,256 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207908 | GRCh37: NC_000003.11:g.(?_75404228)_(76636256_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001005447.1, VCV000814457.1 | 1 |