nsv3907781
- 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:1,633,749
- Description:GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)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: 4251 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 4252 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1101 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907781 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 229,883,805 | 231,517,553 |
| nsv3907781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 230,019,552 | 231,653,299 |
| nsv3907781 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 228,086,175 | 229,719,922 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132141 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051559.5, VCV000057819.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132141 | Submitted genomic | NC_000001.11:g.(?_ 229883805)_(231517 553_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 229,883,805 | 231,517,553 |
| nssv15132141 | Submitted genomic | NC_000001.10:g.(?_ 230019552)_(231653 299_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 230,019,552 | 231,653,299 |
| nssv15132141 | Submitted genomic | NC_000001.9:g.(?_2 28086175)_(2297199 22_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 228,086,175 | 229,719,922 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132141 | GRCh37: NC_000001.10:g.(?_230019552)_(231653299_?)dup, GRCh38: NC_000001.11:g.(?_229883805)_(231517553_?)dup, NCBI36: NC_000001.9:g.(?_228086175)_(229719922_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000051559.5, VCV000057819.1 | 3 |