A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002988



Internal ID19092205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31542061..31771855hg38UCSC Ensembl
Innerchr2:31767131..31996924hg19UCSC Ensembl
Innerchr2:31620635..31850428hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38229795
hg19229794
hg18229794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579150
Samples
Known GenesSRD5A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002988
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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