A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966423



Internal ID19243683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22538858..22538950hg38UCSC Ensembl
Outerchr20:22519496..22519588hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112347
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966423
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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