A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992898



Internal ID18886109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8756767..8857567hg38UCSC Ensembl
Outerchr21:9645600..9746400hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38100801
hg19100801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141394
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992898
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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