A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995676



Internal ID19190288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180015613..180015747hg38UCSC Ensembl
Outerchr5:179442613..179442747hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146523
Supporting Variants
SamplesKWB1
Known GenesRNF130
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995676
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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