A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259728



Internal ID22256405
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241097
Supporting Variants
SamplesNA19238
Known GenesGSG1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259728
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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