nsv4728322
- 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:1,084,289
- Description:GRCh37/hg19 2p11.2(chr2:83598955-84683243)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: 2299 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2299 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728322 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 83,371,831 | 84,456,119 |
| nsv4728322 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 83,598,955 | 84,683,243 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254426 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259610.1, VCV000980434.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254426 | Remapped | Perfect | NC_000002.12:g.(?_ 83371831)_(8445611 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 83,371,831 | 84,456,119 |
| nssv16254426 | Submitted genomic | NC_000002.11:g.(?_ 83598955)_(8468324 3_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 83,598,955 | 84,683,243 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254426 | GRCh37: NC_000002.11:g.(?_83598955)_(84683243_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259610.1, VCV000980434.1 | 3 |