A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191851



Internal ID22342505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53395308..53400887hg38UCSC Ensembl
Outerchr2:53622446..53628025hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg385580
hg195580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264714
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191851
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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