nsv4451808
- 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:2,106,667
- Description:GRCh37/hg19 2q21.3-22.1(chr2:135712129-137818795)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: 4648 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 4648 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 134,954,559 | 137,061,225 |
| nsv4451808 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 135,712,129 | 137,818,795 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776442 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849325.2, VCV000688634.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776442 | Remapped | Perfect | NC_000002.12:g.(?_ 134954559)_(137061 225_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 134,954,559 | 137,061,225 |
| nssv15776442 | Submitted genomic | NC_000002.11:g.(?_ 135712129)_(137818 795_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 135,712,129 | 137,818,795 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776442 | GRCh37: NC_000002.11:g.(?_135712129)_(137818795_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849325.2, VCV000688634.2 | 3 |