A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200693



Internal ID22350104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227251129..227266389hg38UCSC Ensembl
Outerchr1:227438830..227454090hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3815261
hg1915261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280608, nssv14280607
SamplesNA19238, NA19239
Known GenesCDC42BPA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200693
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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