A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224369



Internal ID22367821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63021817..63072935hg38UCSC Ensembl
Outerchr17:61099178..61150296hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3851119
hg1951119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261356
SamplesHG00513
Known GenesMIR548W, TANC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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