A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236276



Internal ID22373537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57962475..57978247hg38UCSC Ensembl
Outerchr17:56039836..56055608hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3604n152
Supporting Variantsnssv14262171, nssv14262173, nssv14262172, nssv14262175, nssv14262174
SamplesHG00512, NA19238, NA19239, HG00731, HG00732
Known GenesVEZF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236276
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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