A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205571



Internal ID22354245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36090059..36163507hg38UCSC Ensembl
Outerchr2:36317202..36390650hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3873449
hg1973449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265471, nssv14265475, nssv14265472, nssv14265474, nssv14265473
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205571
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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