A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962112



Internal ID19210221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68262729..68263107hg38UCSC Ensembl
Outerchr5:67558557..67558935hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120507
Supporting Variants
SamplesKWS1
Known GenesPIK3R1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962112
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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