A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2765755



Internal ID17382411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49530953..49534412hg38UCSC Ensembl
Innerchr13:50105089..50108548hg19UCSC Ensembl
Innerchr13:49003090..49006549hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383460
hg193460
hg183460
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977384
Supporting Variants
SamplesHGDP00456
Known GenesRCBTB1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2765755
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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