A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564479



Internal ID16351888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:41136353..41205700hg38UCSC Ensembl
Innerchr14:41605556..41674903hg19UCSC Ensembl
Innerchr14:40675306..40744653hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3869348
hg1969348
hg1869348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3659n54
Supporting Variantsnssv826689, nssv826690, nssv826688
Samples
Known GenesLOC644919
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564479
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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