nsv3907553
- 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:6,962,276
- Description:GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)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: 19980 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 19953 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 4745 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907553 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 228,014,149 | 234,976,424 |
| nsv3907553 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 228,878,865 | 235,885,068 |
| nsv3907553 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 228,587,109 | 235,549,807 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120397 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136967.4, VCV000147843.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120397 | Submitted genomic | NC_000002.12:g.(?_ 228014149)_(234976 424_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 228,014,149 | 234,976,424 |
| nssv15120397 | Submitted genomic | NC_000002.11:g.(?_ 228878865)_(235885 068_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,878,865 | 235,885,068 |
| nssv15120397 | Submitted genomic | NC_000002.10:g.(?_ 228587109)_(235549 807_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 228,587,109 | 235,549,807 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120397 | GRCh37: NC_000002.11:g.(?_228878865)_(235885068_?)dup, GRCh38: NC_000002.12:g.(?_228014149)_(234976424_?)dup, NCBI36: NC_000002.10:g.(?_228587109)_(235549807_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000136967.4, VCV000147843.1 | 3 |