A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564337



Internal ID16351746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35534330..35535507hg38UCSC Ensembl
Innerchr14:36003536..36004713hg19UCSC Ensembl
Innerchr14:35073287..35074464hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381178
hg191178
hg181178
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825760, nssv825758, nssv825757, nssv825759
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564337
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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