A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001171



Internal ID18848137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:80071425..80071513hg38UCSC Ensembl
Outerchr18:77831387..77831486hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3889
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153247
Supporting Variants
SamplesKWB1
Known GenesRBFADN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001171
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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