A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248545



Internal ID22343625
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264225, nssv14264226, nssv14264224
SamplesHG00512, NA19238, NA19239
Known GenesLGALS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248545
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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