A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116258



Internal ID19284104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:111359255..111359575hg38UCSC Ensembl
Outerchr5:110694953..110695273hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3148n106
Supporting Variantsnssv3954610
SamplesKWS1
Known GenesCAMK4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116258
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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