A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964075



Internal ID19213975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135273395..135273459hg38UCSC Ensembl
Outerchr5:134609085..134609149hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129749
Supporting Variants
SamplesKWS1
Known GenesC5orf66
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964075
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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