A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964074



Internal ID18865838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:108844063..108844150hg38UCSC Ensembl
Outerchr5:108179764..108179851hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129748
Supporting Variants
SamplesKWS1
Known GenesFER
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964074
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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