A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199122



Internal ID22348752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2020307..2038824hg38UCSC Ensembl
Outerchr5:2020421..2038938hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3818518
hg1918518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273710
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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