A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3730770



Internal ID19029051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54242146..54363343hg38UCSC Ensembl
Innerchr2:54469283..54590480hg19UCSC Ensembl
Innerchr2:54322787..54443984hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38121198
hg19121198
hg18121198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004632
Supporting Variants
Samples
Known GenesACYP2, C2orf73, TSPYL6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3730770
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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