nsv4675143
- 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:6,573,937
- Description:GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)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: 17212 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 17212 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675143 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 55,158,587 | 61,732,523 |
| nsv4675143 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 55,552,371 | 62,126,304 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207144 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006505.1, VCV000815528.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207144 | Remapped | Perfect | NC_000012.12:g.(?_ 55158587)_(6173252 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 55,158,587 | 61,732,523 |
| nssv16207144 | Submitted genomic | NC_000012.11:g.(?_ 55552371)_(6212630 4_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 55,552,371 | 62,126,304 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207144 | GRCh37: NC_000012.11:g.(?_55552371)_(62126304_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006505.1, VCV000815528.1 | 3 |