nsv4456539
- 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:719,696
- Description:GRCh37/hg19 12p13.33(chr12:1436977-2156672)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: 2766 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 907 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 2766 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 1,327,811 | 2,047,506 |
| nsv4456539 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 1 | 389,650 |
| nsv4456539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 1,436,977 | 2,156,672 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776362 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849160.2, VCV000688469.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776362 | Remapped | Pass | NW_018654718.1:g.( ?_1)_(389650_?)dup | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 1 | 389,650 |
| nssv15776362 | Remapped | Perfect | NC_000012.12:g.(?_ 1327811)_(2047506_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 1,327,811 | 2,047,506 |
| nssv15776362 | Submitted genomic | NC_000012.11:g.(?_ 1436977)_(2156672_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 1,436,977 | 2,156,672 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776362 | GRCh37: NC_000012.11:g.(?_1436977)_(2156672_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849160.2, VCV000688469.2 | 3 |