A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210464



Internal ID22358357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:53913155..53972342hg38UCSC Ensembl
Outerchr17:51990516..52049703hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3859188
hg1959188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261395
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210464
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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