nsv3890898
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:53,247,014
- Description:GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)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: 142665 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 142594 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 36840 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890898 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 188,818,195 | 242,065,208 |
| nsv3890898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 189,682,921 | 243,007,359 |
| nsv3890898 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 189,391,166 | 242,656,032 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147151 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052958.5, VCV000059158.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147151 | Submitted genomic | NC_000002.12:g.(?_ 188818195)_(242065 208_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 188,818,195 | 242,065,208 |
| nssv15147151 | Submitted genomic | NC_000002.11:g.(?_ 189682921)_(243007 359_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 189,682,921 | 243,007,359 |
| nssv15147151 | Submitted genomic | NC_000002.10:g.(?_ 189391166)_(242656 032_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 189,391,166 | 242,656,032 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147151 | GRCh37: NC_000002.11:g.(?_189682921)_(243007359_?)dup, GRCh38: NC_000002.12:g.(?_188818195)_(242065208_?)dup, NCBI36: NC_000002.10:g.(?_189391166)_(242656032_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052958.5, VCV000059158.1 | 3 |