A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999369



Internal ID19187571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:67634007..67641444hg38UCSC Ensembl
Outerchr8:68546242..68553679hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg387438
hg197438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146168
Supporting Variants
SamplesKWB1
Known GenesCPA6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999369
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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