A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234862



Internal ID22373139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:10843282..10858243hg38UCSC Ensembl
Outerchr17:10746599..10761560hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261041, nssv14261042
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234862
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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