A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265671



Internal ID22186631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:239364085..239423835hg38UCSC Ensembl
Outerchr1:239527385..239587135hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381272
hg191272
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212681
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265671
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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