A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729274



Internal ID18680869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176181774..176298706hg38UCSC Ensembl
Innerchr2:177046502..177163434hg19UCSC Ensembl
Innerchr2:176754748..176871680hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38116933
hg19116933
hg18116933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001933
Supporting Variants
Samples
Known GenesHOXD1, HOXD-AS1, MTX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729274
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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