A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455843



Internal ID15169222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24606013..24763162hg38UCSC Ensembl
Innerchr13:25180151..25337300hg19UCSC Ensembl
Innerchr13:24078151..24235300hg18UCSC Ensembl
Innerchr13:24078151..24235300hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38157150
hg19157150
hg18157150
hg17157150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533312
SamplesHGDP01361
Known GenesATP12A
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv455843
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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