A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117067



Internal ID21300333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62305642..62309226hg38UCSC Ensembl
Innerchr5:61601469..61605053hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg383585
hg193585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14108396
Samplessample136
Known GenesKIF2A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117067
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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