A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979379



Internal ID18898757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31940584..31940911hg38UCSC Ensembl
Outerchr18:29520547..29520874hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117196
Supporting Variants
SamplesKWS2
Known GenesTRAPPC8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979379
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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