A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240919



Internal ID22374815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41268075..41301512hg38UCSC Ensembl
Outerchr22:41664079..41697516hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383842
hg193842
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268188, nssv14268187, nssv14268191, nssv14268190, nssv14268185, nssv14268184, nssv14268189, nssv14268186
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesRANGAP1, ZC3H7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240919
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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