A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000295



Internal ID19192764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117968512..117968876hg38UCSC Ensembl
Outerchr8:118980751..118981115hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147523
Supporting Variants
SamplesKWB1
Known GenesEXT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000295
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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