A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586994



Internal ID18885275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240686640..240766810hg38UCSC Ensembl
Innerchr2:241626057..241706227hg19UCSC Ensembl
Innerchr2:241274730..241354900hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3880171
hg1980171
hg1880171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011471
Supporting Variants
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586994
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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