A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261329



Internal ID22119572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67721431..67734769hg38UCSC Ensembl
Outerchr17:65717547..65730885hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3813339
hg1913339
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216284
Supporting Variants
SamplesHG00512
Known GenesNOL11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261329
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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