A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264788



Internal ID22209989
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234976
Supporting Variants
SamplesHG00732
Known GenesLGALS7, LGALS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264788
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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