nsv4450709
- 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:1,180,789
- Description:GRCh37/hg19 2q24.1(chr2:156773914-157954702)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: 2529 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2529 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4450709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 155,917,402 | 157,098,190 |
| nsv4450709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 156,773,914 | 157,954,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773222 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849189.2, VCV000688498.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773222 | Remapped | Perfect | NC_000002.12:g.(?_ 155917402)_(157098 190_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 155,917,402 | 157,098,190 |
| nssv15773222 | Submitted genomic | NC_000002.11:g.(?_ 156773914)_(157954 702_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 156,773,914 | 157,954,702 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773222 | GRCh37: NC_000002.11:g.(?_156773914)_(157954702_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849189.2, VCV000688498.2 | 3 |