A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205252



Internal ID22353970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63859871..63865004hg38UCSC Ensembl
Outerchr2:64087005..64092138hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385134
hg195134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4609n152
Supporting Variantsnssv14264086, nssv14264087
SamplesNA19238, NA19240
Known GenesUGP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205252
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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