A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264642



Internal ID22260765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161041514..161047022hg38UCSC Ensembl
Outerchr1:161011304..161016812hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222751
Supporting Variants
SamplesNA19238
Known GenesARHGAP30, USF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264642
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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