A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988132



Internal ID19216694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9368418..9368487hg38UCSC Ensembl
Outerchr18:9368416..9368485hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133243
Supporting Variants
SamplesKWS1
Known GenesTWSG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988132
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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