A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227478



Internal ID22369961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60839859..60840509hg38UCSC Ensembl
Outerchr2:61066994..61067644hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3835310
hg1935310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265797
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227478
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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