A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564324



Internal ID16351733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35533726..35535032hg38UCSC Ensembl
Innerchr14:36002932..36004238hg19UCSC Ensembl
Innerchr14:35072683..35073989hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381307
hg191307
hg181307
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3631n54
Supporting Variantsnssv825732, nssv825731, nssv825733
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564324
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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