A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224717



Internal ID22368063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:55688950..55772549hg38UCSC Ensembl
Outerchr3:55722978..55806577hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg385824
hg195824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270651, nssv14271769, nssv14271768, nssv14270652, nssv14270653, nssv14270650
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesERC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224717
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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