A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003190



Internal ID19191547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66376277..66376346hg38UCSC Ensembl
Outerchr8:67288512..67288581hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153913
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003190
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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