A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566003



Internal ID16353412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103521722..103523420hg38UCSC Ensembl
Innerchr14:103988059..103989757hg19UCSC Ensembl
Innerchr14:103057812..103059510hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv834369, nssv834367, nssv834365, nssv834366, nssv834368, nssv834363, nssv834364
Samples
Known GenesCKB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566003
Frequency
Sample Size17421
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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