A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261268



Internal ID22133454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44169287..44187515hg38UCSC Ensembl
Outerchr17:42246655..42264883hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381770
hg191770
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241793
Supporting Variants
SamplesHG00513
Known GenesASB16, ASB16-AS1, TMUB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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