nsv429563
- Organism: Homo sapiens
- Study:nstd11 (Walter et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:119,617
- Publication(s):Walter et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 514 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 9 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv429563 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 46,008,343 | 46,127,959 |
nsv429563 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 45,867,778 | 45,987,394 |
nsv429563 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 45,752,722 | 45,872,338 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459349 | copy number loss | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv459349 | Remapped | Perfect | NC_000023.11:g.(?_ 46008343)_(4612795 9_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 46,008,343 | 46,127,959 |
nssv459349 | Remapped | Perfect | NC_000023.10:g.(?_ 45867778)_(4598739 4_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 45,867,778 | 45,987,394 |
nssv459349 | Submitted genomic | NC_000023.9:g.(?_4 5752722)_(45872338 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 45,752,722 | 45,872,338 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459349 | NCBI36: NC_000023.9:g.(?_45752722)_(45872338_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |