A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456030



Internal ID15169409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31375957..31595187hg38UCSC Ensembl
Innerchr2:31598823..31820256hg19UCSC Ensembl
Innerchr2:31452327..31673760hg18UCSC Ensembl
Innerchr2:31510474..31731907hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38219231
hg19221434
hg18221434
hg17221434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533453
Samples1780854095_A
Known GenesSRD5A2, XDH
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)nsv456030
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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