A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143694



Internal ID18914635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2876551..2876669hg38UCSC Ensembl
Outerchr18:2876549..2876667hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994383
SamplesKWS1
Known GenesEMILIN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143694
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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