A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245351



Internal ID22341893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57957705..57978247hg38UCSC Ensembl
Outerchr17:56035066..56055608hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3604n152
Supporting Variantsnssv14261272, nssv14261271
SamplesHG00732, HG00513
Known GenesVEZF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245351
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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