A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192225



Internal ID22342837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:67160325..67212636hg38UCSC Ensembl
Outerchr2:67387457..67439768hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3852312
hg1952312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264676
SamplesHG00513
Known GenesLOC644838
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192225
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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