A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977340



Internal ID19232015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:20930939..20940639hg38UCSC Ensembl
Outerchr18:18510900..18520600hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg389701
hg199701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124766
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977340
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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