A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234976



Internal ID22373169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38758851..38799961hg38UCSC Ensembl
Outerchr19:39249491..39290601hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4263n152
Supporting Variantsnssv14264788
SamplesHG00732
Known GenesLGALS7, LGALS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234976
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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