A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129679



Internal ID18930353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38507949..38508035hg38UCSC Ensembl
Outerchr21:39879873..39879959hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963973
SamplesKWS1
Known GenesERG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129679
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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