nsv7099028
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:253,975
- Description:
NC_000012.12:g.132237283_132491257dup AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2804 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1593 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1087 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7099028 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 132,237,283 | 132,491,257 | ||
| nsv7099028 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000012.11 | Chr12 | 132,808,130 | 132,967,794 |
| nsv7099028 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 11,322 | 165,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792880 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV003225618.1, VCV002500706.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792880 | Submitted genomic | NC_000012.12:g.132 237283_132491257du p | GRCh38 (hg38) | NC_000012.12 | Chr12 | 132,237,283 | 132,491,257 | ||
| nssv18792880 | Remapped | Pass | NW_003315937.1:g.1 1322_165247dup | GRCh37.p13 | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 11,322 | 165,247 |
| nssv18792880 | Remapped | Pass | NC_000012.11:g.132 808130_132967794du p | GRCh37.p13 | Second Pass | NC_000012.11 | Chr12 | 132,808,130 | 132,967,794 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792880 | GRCh38: NC_000012.12:g.132237283_132491257dup | duplication | de novo | not specified | Uncertain significance | ClinVar | RCV003225618.1, VCV002500706.1 |