A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564043



Internal ID16004766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23495437..23550918hg38UCSC Ensembl
Innerchr14:23964646..24020127hg19UCSC Ensembl
Innerchr14:23034486..23089967hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3855482
hg1955482
hg1855482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv824367
Samples
Known GenesTHTPA, ZFHX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564043
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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