nsv3871234
- 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:21,535
- Description:GRCh37/hg19 2q37.3(chr2:241556949-241578483)x3 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: 379 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871234 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 240,617,532 | 240,639,066 |
| nsv3871234 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 241,556,949 | 241,578,483 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141586 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000449114.3, VCV000393915.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141586 | Remapped | Perfect | NC_000002.12:g.(?_ 240617532)_(240639 066_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 240,617,532 | 240,639,066 |
| nssv15141586 | Submitted genomic | NC_000002.11:g.(?_ 241556949)_(241578 483_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 241,556,949 | 241,578,483 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141586 | GRCh37: NC_000002.11:g.(?_241556949)_(241578483_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000449114.3, VCV000393915.3 | 3 |