A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002797



Internal ID18845370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27322788..27322885hg38UCSC Ensembl
Outerchr8:27180305..27180402hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149289
Supporting Variants
SamplesKWB1
Known GenesPTK2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002797
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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