A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142254



Internal ID18922935
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 StatusM
Merged Variants
Supporting Variantsnssv3993758
SamplesKWS2
Known GenesTPM4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142254
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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