A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233383



Internal ID22372745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9897388..9902879hg38UCSC Ensembl
Outerchr17:9800705..9806196hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382474
hg192474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261310, nssv14261311
SamplesHG00731, HG00733
Known GenesRCVRN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233383
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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