nsv3905747
- 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:753,547
- Description:GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)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: 1956 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1957 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 492 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905747 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 230,489,657 | 231,243,203 |
| nsv3905747 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 230,625,403 | 231,378,949 |
| nsv3905747 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 228,692,026 | 229,445,572 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119839 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051560.4, VCV000057820.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119839 | Submitted genomic | NC_000001.11:g.(?_ 230489657)_(231243 203_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 230,489,657 | 231,243,203 |
| nssv15119839 | Submitted genomic | NC_000001.10:g.(?_ 230625403)_(231378 949_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 230,625,403 | 231,378,949 |
| nssv15119839 | Submitted genomic | NC_000001.9:g.(?_2 28692026)_(2294455 72_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 228,692,026 | 229,445,572 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119839 | GRCh37: NC_000001.10:g.(?_230625403)_(231378949_?)dup, GRCh38: NC_000001.11:g.(?_230489657)_(231243203_?)dup, NCBI36: NC_000001.9:g.(?_228692026)_(229445572_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000051560.4, VCV000057820.1 | 3 |