A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764018



Internal ID17477651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141199392..141210803hg38UCSC Ensembl
Innerchr5:140578965..140590375hg19UCSC Ensembl
Innerchr5:140559149..140570559hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3811412
hg1911411
hg1811411
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969261
Supporting Variants
SamplesHGDP00927
Known GenesPCDHB11, PCDHB12
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764018
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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