A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993758



Internal ID18882692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16069328..16069496hg38UCSC Ensembl
Outerchr19:16180138..16180306hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142254
Supporting Variants
SamplesKWS2
Known GenesTPM4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993758
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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