A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988600



Internal ID19244555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26991712..26992427hg38UCSC Ensembl
Outerchr18:24571676..24572391hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135051
Supporting Variants
SamplesKWS2
Known GenesCHST9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988600
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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