A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270888



Internal ID22189222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93814509..93877728hg38UCSC Ensembl
Outerchr1:94280065..94343284hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218448
Supporting Variants
SamplesHG00731
Known GenesBCAR3, DNTTIP2, MIR760
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270888
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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