A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236957



Internal ID22373746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101475938..101500876hg38UCSC Ensembl
Outerchr9:104238220..104263158hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg381878
hg191878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283596, nssv14283600, nssv14283601, nssv14283597, nssv14283599, nssv14283602, nssv14283598
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesTMEM246
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236957
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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