A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248190



Internal ID22376907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137031735..137053186hg38UCSC Ensembl
Outerchr9:139926187..139947638hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280740, nssv14280741, nssv14280739, nssv14280738
SamplesNA19238, HG00732, HG00733, HG00514
Known GenesC9orf139, ENTPD2, FUT7, NPDC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248190
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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