nsv3885206
- 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:248,842,640
- Description:GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)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: 588051 SVs from 159 studies. See in: genome view
Overlapping variant regions from other studies: 586207 SVs from 159 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885206 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 82,154 | 248,924,793 |
| nsv3885206 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 82,154 | 249,218,992 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156970 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000736305.2, VCV000599669.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156970 | Remapped | Good | NC_000001.11:g.(?_ 82154)_(248924793_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 82,154 | 248,924,793 |
| nssv15156970 | Submitted genomic | NC_000001.10:g.(?_ 82154)_(249218992_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 82,154 | 249,218,992 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156970 | GRCh37: NC_000001.10:g.(?_82154)_(249218992_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000736305.2, VCV000599669.2 | 3 |