A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564329



Internal ID16351738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35533829..35535507hg38UCSC Ensembl
Innerchr14:36003035..36004713hg19UCSC Ensembl
Innerchr14:35072786..35074464hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381679
hg191679
hg181679
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3631n54
Supporting Variantsnssv825746, nssv825745, nssv825744
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564329
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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