A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981231



Internal ID19219518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23637863..23638863hg38UCSC Ensembl
Outerchr20:23618500..23619500hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118910
Supporting Variants
SamplesKWS1
Known GenesCST3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981231
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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