A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195887



Internal ID22345992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:74614753..74635485hg38UCSC Ensembl
Outerchr2:74841880..74862612hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3820733
hg1920733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264442
SamplesNA19239
Known GenesM1AP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195887
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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