A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210616



Internal ID22358457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19706853..19713863hg38UCSC Ensembl
Outerchr17:19610166..19617176hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387011
hg197011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260828
SamplesHG00512
Known GenesSLC47A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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