A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564048



Internal ID16351457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23984157..24008771hg38UCSC Ensembl
Innerchr14:24453366..24477980hg19UCSC Ensembl
Innerchr14:23523206..23547820hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3824615
hg1924615
hg1824615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv824372
Samples
Known GenesDHRS4L1, DHRS4L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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