A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240129



Internal ID22374610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:62687822..62719543hg38UCSC Ensembl
Outerchr9:46999123..47030844hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382575
hg192575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281466, nssv14281465
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240129
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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