A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998370



Internal ID17291322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:72378693..72383092hg38UCSC Ensembl
Outerchr14:72845401..72849800hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952865
Supporting Variants
SamplesBILGI_BIOE
Known GenesRGS6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998370
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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