A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237481



Internal ID22373886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34975718..34979939hg38UCSC Ensembl
Outerchr17:33302737..33306958hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381457
hg191457
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261175, nssv14261176
SamplesNA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237481
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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