nsv4674744
- 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:969,026
- Description:GRCh37/hg19 3p21.31(chr3:44444902-45413927)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: 1972 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1972 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674744 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 44,403,410 | 45,372,435 |
| nsv4674744 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 44,444,902 | 45,413,927 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207899 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005429.1, VCV000814439.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207899 | Remapped | Perfect | NC_000003.12:g.(?_ 44403410)_(4537243 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 44,403,410 | 45,372,435 |
| nssv16207899 | Submitted genomic | NC_000003.11:g.(?_ 44444902)_(4541392 7_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 44,444,902 | 45,413,927 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207899 | GRCh37: NC_000003.11:g.(?_44444902)_(45413927_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001005429.1, VCV000814439.1 | 1 |