A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv824371



Internal ID16118327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23959300..24056425hg38UCSC Ensembl
Innerchr14:24428509..24525634hg19UCSC Ensembl
Innerchr14:23498349..23595474hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3897126
hg1997126
hg1897126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564047
Supporting Variants
Samples
Known GenesDHRS4, DHRS4L1, DHRS4L2, LRRC16B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv824371
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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