A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200503



Internal ID22349943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:22154237..22178959hg38UCSC Ensembl
Outerchr6:22154466..22179188hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3824723
hg1924723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276106, nssv14276107
SamplesNA19239, NA19240
Known GenesCASC15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200503
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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