A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1156419



Internal ID22086820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179504310..179558269hg38UCSC Ensembl
Outerchr5:179501760..179564793hg38UCSC Ensembl
Innerchr5:178931311..178985270hg19UCSC Ensembl
Outerchr5:178928761..178991794hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3863034
hg1963034
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4018112
Samples
Known GenesRUFY1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1156419
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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