A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729356



Internal ID18680951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216266863..216327849hg38UCSC Ensembl
Innerchr2:217131586..217192572hg19UCSC Ensembl
Innerchr2:216839831..216900817hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3860987
hg1960987
hg1860987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003877
Supporting Variants
Samples
Known GenesMARCH4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729356
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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