A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005686



Internal ID19094903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71545591..71579589hg38UCSC Ensembl
Innerchr2:71772721..71806719hg19UCSC Ensembl
Innerchr2:71626229..71660227hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3833999
hg1933999
hg1833999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577295
Samples
Known GenesDYSF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005686
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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