A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241567



Internal ID22375005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101446595..101507582hg38UCSC Ensembl
Outerchr9:104208877..104269864hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283594, nssv14283595
SamplesHG00512, NA19238
Known GenesTMEM246
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241567
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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