A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120230



Internal ID19284558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:118198364..118198468hg38UCSC Ensembl
Outerchr10:119957876..119957980hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961009
SamplesKWS1
Known GenesCASC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120230
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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