A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261139



Internal ID22222507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28446364..28460761hg38UCSC Ensembl
Outerchr17:26773382..26787779hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231650
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261139
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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