A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3579144



Internal ID18530739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31201722..31245498hg38UCSC Ensembl
Innerchr2:31424588..31468364hg19UCSC Ensembl
Innerchr2:31278092..31321868hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3843777
hg1943777
hg1843777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009712
Supporting Variants
Samples
Known GenesCAPN14, EHD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3579144
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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