A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141394



Internal ID18929239
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 StatusM
Merged Variants
Supporting Variantsnssv3992898
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141394
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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