A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211333



Internal ID22358921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112630576..112642448hg38UCSC Ensembl
Outerchr1:113173198..113185070hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269377, nssv14269378
SamplesNA19239, NA19240
Known GenesCAPZA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211333
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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