A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195464



Internal ID22345646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74345886..74351349hg38UCSC Ensembl
chr5:73641711..73647174hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385464
hg195464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321151
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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