A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275467



Internal ID22304779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24050693..24063947hg38UCSC Ensembl
Outerchr6:24050921..24064175hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229582
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275467
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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