A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114729



Internal ID18919246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132698747..132698797hg38UCSC Ensembl
Outerchr5:132034439..132034489hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974631
SamplesKWS2
Known GenesKIF3A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114729
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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