nsv3889542
- 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:261,617
- Description:GRCh37/hg19 1q21.3(chr1:153488723-153750339)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: 924 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 933 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889542 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 153,516,247 | 153,777,863 |
| nsv3889542 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 153,488,723 | 153,750,339 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15169927 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000749192.2, VCV000612556.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15169927 | Remapped | Perfect | NC_000001.11:g.(?_ 153516247)_(153777 863_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 153,516,247 | 153,777,863 |
| nssv15169927 | Submitted genomic | NC_000001.10:g.(?_ 153488723)_(153750 339_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 153,488,723 | 153,750,339 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15169927 | GRCh37: NC_000001.10:g.(?_153488723)_(153750339_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000749192.2, VCV000612556.2 | 3 |