A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259718



Internal ID22183855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:27133964..27146135hg38UCSC Ensembl
Outerchr16:27145285..27157456hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234114
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259718
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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