A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219858



Internal ID22364740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28454032..28460761hg38UCSC Ensembl
Outerchr17:26781050..26787779hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386730
hg196730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260938, nssv14260939, nssv14260940
SamplesNA19238, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219858
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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