A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457293



Internal ID15170672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101495064..101733297hg38UCSC Ensembl
Innerchr15:102035267..102273500hg19UCSC Ensembl
Innerchr15:99852790..100091023hg18UCSC Ensembl
Innerchr15:99852790..100091023hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38238234
hg19238234
hg18238234
hg17238234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534517
Samples1780862225_A
Known GenesTARSL2, TM2D3
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)nsv457293
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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