A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980896



Internal ID18870413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5492270..5492515hg38UCSC Ensembl
Outerchr18:5492269..5492514hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118225
Supporting Variants
SamplesKWS1
Known GenesEPB41L3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980896
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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