A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120413



Internal ID18939909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44697397..44702376hg38UCSC Ensembl
Outerchr21:46117312..46122291hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384980
hg194980
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962027
SamplesKWS1
Known GenesKRTAP10-12, TSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120413
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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