nsv4674480
- 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:396,745
- Description:GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3 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: 1241 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1240 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 46,036,087 | 46,432,831 |
| nsv4674480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 46,501,759 | 46,898,503 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206480 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005084.1, VCV000814072.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206480 | Remapped | Perfect | NC_000001.11:g.(?_ 46036087)_(4643283 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 46,036,087 | 46,432,831 |
| nssv16206480 | Submitted genomic | NC_000001.10:g.(?_ 46501759)_(4689850 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 46,501,759 | 46,898,503 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206480 | GRCh37: NC_000001.10:g.(?_46501759)_(46898503_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005084.1, VCV000814072.1 | 3 |