A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235314



Internal ID22373262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134649519..134688263hg38UCSC Ensembl
Outerchr9:137541365..137580109hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9798n152
Supporting Variantsnssv14289718, nssv14289719, nssv14289720
SamplesNA19238, NA19239, NA19240
Known GenesCOL5A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235314
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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