A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2760532



Internal ID17445103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80659499..80663016hg38UCSC Ensembl
Innerchr14:81125843..81129360hg19UCSC Ensembl
Innerchr14:80195596..80199113hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383518
hg193518
hg183518
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974475
Supporting Variants
SamplesHGDP00665
Known GenesCEP128
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2760532
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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