A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993943



Internal ID19228673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96896864..96896964hg38UCSC Ensembl
Outerchr5:96232568..96232668hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142441
Supporting Variants
SamplesKWS2
Known GenesERAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993943
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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