A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712164



Internal ID19010445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23957385..24025829hg38UCSC Ensembl
Innerchr14:24426594..24495038hg19UCSC Ensembl
Innerchr14:23496434..23564878hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3868445
hg1968445
hg1868445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050491
Supporting Variants
Samples
Known GenesDHRS4, DHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712164
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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