A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120354



Internal ID19273659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7843429..7843557hg38UCSC Ensembl
Outerchr19:7908315..7908443hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961939
SamplesKWS1
Known GenesEVI5L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120354
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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