A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118904



Internal ID18911266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2692454..2693454hg38UCSC Ensembl
Outerchr20:2673100..2674100hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2202n106
Supporting Variantsnssv3981225
SamplesKWS1
Known GenesEBF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118904
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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