A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264191



Internal ID22257587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34529484..34538684hg38UCSC Ensembl
Outerchr19:35020389..35029589hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg382983
hg192983
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238057
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264191
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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