A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143966



Internal ID19271160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:180980373..180981373hg38UCSC Ensembl
Outerchr2:181845100..181846100hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2103n106
Supporting Variantsnssv3994678
SamplesKWS1
Known GenesUBE2E3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143966
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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