A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961586



Internal ID19214330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90923983..90929283hg38UCSC Ensembl
Outerchr5:90219800..90225100hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128916
Supporting Variants
SamplesKWS1
Known GenesGPR98
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961586
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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