nsv3877583
- 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:13,038,517
- Description:GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) 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: 28721 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 28737 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3877583 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 94,863,294 | 107,901,810 |
| nsv3877583 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 95,529,039 | 108,518,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15149422 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000449270.3, VCV000395690.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149422 | Remapped | Good | NC_000002.12:g.(?_ 94863294)_(1079018 10_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 94,863,294 | 107,901,810 |
| nssv15149422 | Submitted genomic | NC_000002.11:g.(?_ 95529039)_(1085182 66_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 95,529,039 | 108,518,266 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15149422 | GRCh37: NC_000002.11:g.(?_95529039)_(108518266_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000449270.3, VCV000395690.3 |