A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264226



Internal ID22273002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38787680..38799961hg38UCSC Ensembl
Outerchr19:39278320..39290601hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385888
hg195888
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248545
Supporting Variants
SamplesNA19239
Known GenesLGALS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264226
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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