A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564325



Internal ID16351734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35533726..35535145hg38UCSC Ensembl
Innerchr14:36002932..36004351hg19UCSC Ensembl
Innerchr14:35072683..35074102hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381420
hg191420
hg181420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3630n54
Supporting Variantsnssv825735, nssv825736, nssv825734
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564325
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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