nsv3892823
- 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:31,546,570
- Description:GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)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: 91466 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 91348 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 23493 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 |
|---|---|---|---|---|---|---|---|
| nsv3892823 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 210,579,676 | 242,126,245 |
| nsv3892823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 211,444,400 | 243,059,659 |
| nsv3892823 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 211,152,645 | 242,717,069 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147318 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135934.6, VCV000146683.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147318 | Submitted genomic | NC_000002.12:g.(?_ 210579676)_(242126 245_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 210,579,676 | 242,126,245 |
| nssv15147318 | Submitted genomic | NC_000002.11:g.(?_ 211444400)_(243059 659_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 211,444,400 | 243,059,659 |
| nssv15147318 | Submitted genomic | NC_000002.10:g.(?_ 211152645)_(242717 069_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 211,152,645 | 242,717,069 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147318 | GRCh37: NC_000002.11:g.(?_211444400)_(243059659_?)dup, GRCh38: NC_000002.12:g.(?_210579676)_(242126245_?)dup, NCBI36: NC_000002.10:g.(?_211152645)_(242717069_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135934.6, VCV000146683.2 | 3 |