A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134718



Internal ID18933826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55577190..55577248hg38UCSC Ensembl
Outerchr18:53244421..53244479hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972173, nssv3955389
SamplesKWS1, KWS2
Known GenesTCF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134718
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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