A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202225



Internal ID22351415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:13187966..13276929hg38UCSC Ensembl
Outerchr2:13328091..13417054hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3888964
hg1988964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265290
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202225
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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