A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218267



Internal ID22363661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240623625..240647029hg38UCSC Ensembl
Outerchr2:241563042..241586446hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266732, nssv14266734, nssv14266731, nssv14267408, nssv14267410, nssv14266733, nssv14267409
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known GenesGPR35
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218267
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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