nsv4452160
- 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:6,781,597
- Description:GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)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: 15903 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 15991 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4452160 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 206,308,879 | 213,090,475 |
| nsv4452160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 206,329,070 | 213,263,817 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777242 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848713.2, VCV000688022.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777242 | Remapped | Good | NC_000001.11:g.(?_ 206308879)_(213090 475_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,308,879 | 213,090,475 |
| nssv15777242 | Submitted genomic | NC_000001.10:g.(?_ 206329070)_(213263 817_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 206,329,070 | 213,263,817 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777242 | GRCh37: NC_000001.10:g.(?_206329070)_(213263817_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848713.2, VCV000688022.2 | 3 |