A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203543



Internal ID22352532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209965654..210002629hg38UCSC Ensembl
Outerchr2:210830378..210867353hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3836976
hg1936976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265271
SamplesHG00731
Known GenesRPE, UNC80
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203543
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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