A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009712



Internal ID18752243
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 StatusM
Merged Variantsdgv3746n100
Supporting Variantsnssv3579143, nssv3579144, nssv3579141, nssv3579142, nssv3579145
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)nsv1009712
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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