A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259727



Internal ID22225503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:27931312..27950994hg38UCSC Ensembl
Outerchr16:27942633..27962315hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241097
Supporting Variants
SamplesHG00733
Known GenesGSG1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259727
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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