A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000013



Internal ID19089230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23773045..23850330hg38UCSC Ensembl
Innerchr2:23995915..24073200hg19UCSC Ensembl
Innerchr2:23849419..23926704hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3877286
hg1977286
hg1877286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3741n100
Supporting Variantsnssv3579018
Samples
Known GenesATAD2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000013
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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