A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263052



Internal ID22268126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5146615..5152499hg38UCSC Ensembl
Outerchr19:5146626..5152510hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38715
hg19715
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230569
Supporting Variants
SamplesNA19238
Known GenesKDM4B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263052
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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