A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214301



Internal ID22360992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111399769..111422065hg38UCSC Ensembl
Outerchr9:114162049..114184345hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3822297
hg1922297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282819
SamplesHG00512
Known GenesKIAA0368
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214301
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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