A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147216



Internal ID19199990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:103417139..103417189hg38UCSC Ensembl
Outerchr8:104429367..104429417hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999992
SamplesKWB1
Known GenesDCAF13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147216
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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