A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265720



Internal ID22282236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230323621..230340872hg38UCSC Ensembl
Outerchr1:230459367..230476618hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212665
Supporting Variants
SamplesNA19239
Known GenesPGBD5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265720
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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