A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983967



Internal ID18272472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20873752..20965496hg38UCSC Ensembl
Innerchr14:21341911..21433655hg19UCSC Ensembl
Innerchr14:20411751..20503495hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3891745
hg1991745
hg1891745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761102, nssv2766407, nssv2757820, nssv2761944, nssv2764422, nssv2759979, nssv2759520, nssv2759223
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP01307, HGDP00542, HGDP01029, HGDP00927
Known GenesECRP, RNASE2, RNASE3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983967
Frequency
Sample Size10
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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