nsv3901000
- 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:6,020,625
- Description:GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)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: 13350 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 13350 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 3413 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901000 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 100,478,285 | 106,498,909 |
| nsv3901000 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 101,094,747 | 107,115,365 |
| nsv3901000 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 100,461,179 | 106,481,797 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148165 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141445.6, VCV000152946.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148165 | Submitted genomic | NC_000002.12:g.(?_ 100478285)_(106498 909_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 100,478,285 | 106,498,909 |
| nssv15148165 | Submitted genomic | NC_000002.11:g.(?_ 101094747)_(107115 365_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 101,094,747 | 107,115,365 |
| nssv15148165 | Submitted genomic | NC_000002.10:g.(?_ 100461179)_(106481 797_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 100,461,179 | 106,481,797 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148165 | GRCh37: NC_000002.11:g.(?_101094747)_(107115365_?)dup, GRCh38: NC_000002.12:g.(?_100478285)_(106498909_?)dup, NCBI36: NC_000002.10:g.(?_100461179)_(106481797_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141445.6, VCV000152946.2 | 3 |