A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231483



Internal ID22330710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137498927..137521642hg38UCSC Ensembl
Outerchr9:140393379..140416094hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382717
hg192717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280766, nssv14280764, nssv14280762, nssv14280761, nssv14280763, nssv14280760, nssv14280768, nssv14280765, nssv14280767
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPNPLA7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231483
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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