A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282963



Internal ID22255036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:36760908..36770845hg38UCSC Ensembl
Outerchr9:36760905..36770842hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3818623
hg1918623
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245806
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282963
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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