A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268928



Internal ID22187862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236707944..236721204hg38UCSC Ensembl
Outerchr1:236871244..236884504hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227611
Supporting Variants
SamplesHG00731
Known GenesACTN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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