A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110318



Internal ID19272004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7842114..7843714hg38UCSC Ensembl
Outerchr19:7907000..7908600hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1704n106
Supporting Variantsnssv3959965
SamplesKWS1
Known GenesEVI5L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110318
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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