A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216105



Internal ID22362215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57596519..57619814hg38UCSC Ensembl
Outerchr17:55673880..55697175hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3823296
hg1923296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260979, nssv14260973, nssv14260978, nssv14260976, nssv14260974, nssv14260975, nssv14260977
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesMSI2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216105
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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