nsv4676243
- 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:704,023
- Description:GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)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: 2096 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2096 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 40,269,982 | 40,974,004 |
| nsv4676243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 40,665,986 | 41,370,008 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207477 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007190.1, VCV000816227.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207477 | Remapped | Perfect | NC_000022.11:g.(?_ 40269982)_(4097400 4_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 40,269,982 | 40,974,004 |
| nssv16207477 | Submitted genomic | NC_000022.10:g.(?_ 40665986)_(4137000 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 40,665,986 | 41,370,008 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207477 | GRCh37: NC_000022.10:g.(?_40665986)_(41370008_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007190.1, VCV000816227.1 | 3 |