nsv4674638
- 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:405,742
- Description:GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1060 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1060 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674638 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 46,302,736 | 46,708,477 |
| nsv4674638 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 46,768,408 | 47,174,149 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207637 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001007440.1, VCV000816515.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207637 | Remapped | Perfect | NC_000001.11:g.(?_ 46302736)_(4670847 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 46,302,736 | 46,708,477 |
| nssv16207637 | Submitted genomic | NC_000001.10:g.(?_ 46768408)_(4717414 9_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 46,768,408 | 47,174,149 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207637 | GRCh37: NC_000001.10:g.(?_46768408)_(47174149_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001007440.1, VCV000816515.1 | 3 |