A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959967



Internal ID18878912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18697090..18699090hg38UCSC Ensembl
Outerchr19:18807900..18809900hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110320
Supporting Variants
SamplesKWS1
Known GenesCRTC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959967
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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