A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222896



Internal ID22366827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3497867..3504220hg38UCSC Ensembl
Outerchr1:3414431..3420784hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg383666
hg193666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259737, nssv14259735, nssv14259739, nssv14259734, nssv14259736, nssv14259738
SamplesNA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesMEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222896
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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