nsv3910856
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,356,474
- Description:NCBI36/hg18 2q21.2-22.1(chr2:134449789-141806260)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17085 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 17085 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 4395 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3910856 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 133,975,748 | 141,332,221 |
| nsv3910856 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 134,733,319 | 142,089,790 |
| nsv3910856 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 134,449,789 | 141,806,260 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142548 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511147.2, VCV000443678.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142548 | Remapped | Perfect | NC_000002.12:g.(?_ 133975748)_(141332 221_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 133,975,748 | 141,332,221 |
| nssv15142548 | Remapped | Perfect | NC_000002.11:g.(?_ 134733319)_(142089 790_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 134,733,319 | 142,089,790 |
| nssv15142548 | Submitted genomic | NC_000002.10:g.(?_ 134449789)_(141806 260_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 134,449,789 | 141,806,260 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142548 | NCBI36: NC_000002.10:g.(?_134449789)_(141806260_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511147.2, VCV000443678.2 | 1 |