A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002384



Internal ID19192049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:111359268..111359574hg38UCSC Ensembl
Outerchr5:110694966..110695272hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153730
Supporting Variants
SamplesKWB1
Known GenesCAMK4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002384
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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