nsv3907158
- 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:11,445,815
- Description:GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)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: 26386 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 26389 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 6884 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 |
|---|---|---|---|---|---|---|---|
| nsv3907158 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 64,072,618 | 75,518,432 |
| nsv3907158 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 64,538,290 | 75,984,117 |
| nsv3907158 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 64,310,878 | 75,756,705 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137773 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142452.6, VCV000154385.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137773 | Submitted genomic | NC_000001.11:g.(?_ 64072618)_(7551843 2_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 64,072,618 | 75,518,432 |
| nssv15137773 | Submitted genomic | NC_000001.10:g.(?_ 64538290)_(7598411 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 64,538,290 | 75,984,117 |
| nssv15137773 | Submitted genomic | NC_000001.9:g.(?_6 4310878)_(75756705 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 64,310,878 | 75,756,705 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137773 | GRCh37: NC_000001.10:g.(?_64538290)_(75984117_?)dup, GRCh38: NC_000001.11:g.(?_64072618)_(75518432_?)dup, NCBI36: NC_000001.9:g.(?_64310878)_(75756705_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000142452.6, VCV000154385.2 | 3 |