A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003337



Internal ID19190206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68406458..68411959hg38UCSC Ensembl
Outerchr17:66402599..66408100hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154062
Supporting Variants
SamplesKWB1
Known GenesARSG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003337
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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