A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130647



Internal ID18933277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51818707..51819043hg38UCSC Ensembl
Outerchr10:53578467..53578803hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966962
SamplesKWS2
Known GenesPRKG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130647
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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