nsv3915201
- 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:370,692
- Description:NCBI36/hg18 13q21.1(chr13:54052007-54373991)x1 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: 849 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 849 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3915201 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 54,559,206 | 54,579,871 | 54,901,855 | 54,929,897 |
nsv3915201 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 55,133,341 | 55,154,006 | 55,475,990 | 55,504,032 |
nsv3915201 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 54,031,342 | 54,052,007 | 54,373,991 | 54,402,033 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15129606 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000453053.2, VCV000399214.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15129606 | Remapped | Perfect | NC_000013.11:g.(54 559206_54579871)_( 54901855_54929897) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 54,559,206 | 54,579,871 | 54,901,855 | 54,929,897 |
nssv15129606 | Remapped | Perfect | NC_000013.10:g.(55 133341_55154006)_( 55475990_55504032) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 55,133,341 | 55,154,006 | 55,475,990 | 55,504,032 |
nssv15129606 | Submitted genomic | NC_000013.9:g.(540 31342_54052007)_(5 4373991_54402033)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 54,031,342 | 54,052,007 | 54,373,991 | 54,402,033 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15129606 | NCBI36: NC_000013.9:g.(54031342_54052007)_(54373991_54402033)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000453053.2, VCV000399214.2 | 1 |