A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194048



Internal ID22344418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:39760914..39779154hg38UCSC Ensembl
Outerchr5:39761016..39779256hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3818241
hg1918241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274712
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194048
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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