A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212770



Internal ID22359922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:64893064..64917791hg38UCSC Ensembl
Outerchr2:65120198..65144925hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381170
hg191170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265739
SamplesHG00513
Known GenesLOC400958
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212770
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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