A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959186



Internal ID19221954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9328567..9335067hg38UCSC Ensembl
Outerchr21:10167400..10173900hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg386501
hg196501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118672
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959186
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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