A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223239



Internal ID22367074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17425073..17425591hg38UCSC Ensembl
Outerchr1:17751569..17752087hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274031
SamplesHG00731
Known GenesRCC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223239
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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