nsv3912305
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,261,520
- Description:NCBI36/hg18 1p36.23-36.13(chr1:8941506-16358337)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: 23624 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 23958 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 6249 SVs from 36 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3912305 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 8,930,031 | 8,930,031 | 16,191,550 | 16,191,550 |
nsv3912305 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 8,990,090 | 8,990,090 | 16,518,045 | 16,518,045 |
nsv3912305 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 8,912,677 | 8,941,506 | 16,358,337 | 16,390,632 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15128051 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000452027.2, VCV000399124.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15128051 | Remapped | Good | NC_000001.11:g.(89 30031_8930031)_(16 191550_16191550)du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,930,031 | 8,930,031 | 16,191,550 | 16,191,550 |
nssv15128051 | Remapped | Good | NC_000001.10:g.(89 90090_8990090)_(16 518045_16518045)du p | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,990,090 | 8,990,090 | 16,518,045 | 16,518,045 |
nssv15128051 | Submitted genomic | NC_000001.9:g.(891 2677_8941506)_(163 58337_16390632)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,912,677 | 8,941,506 | 16,358,337 | 16,390,632 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15128051 | NCBI36: NC_000001.9:g.(8912677_8941506)_(16358337_16390632)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000452027.2, VCV000399124.2 | 3 |