A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245320



Internal ID22376116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101597074..101632932hg38UCSC Ensembl
Outerchr9:104359356..104395214hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38946
hg19946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281393, nssv14281394
SamplesNA19239, HG00732
Known GenesGRIN3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245320
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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