A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993747



Internal ID18888865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:61903644..61912742hg38UCSC Ensembl
Outerchr18:59570877..59579975hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg389099
hg199099
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142240
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993747
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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