A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564326



Internal ID16351735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35533726..35535285hg38UCSC Ensembl
Innerchr14:36002932..36004491hg19UCSC Ensembl
Innerchr14:35072683..35074242hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381560
hg191560
hg181560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3630n54
Supporting Variantsnssv825737, nssv825739, nssv825738
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564326
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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