A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955749



Internal ID17304622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:111359249..111359558hg38UCSC Ensembl
Outerchr5:110694947..110695256hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002040
SamplesBILGI_BIOE
Known GenesCAMK4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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