A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263554



Internal ID22256846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54239005..54245873hg38UCSC Ensembl
Outerchr19:54742881..54749725hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386869
hg196845
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227498
Supporting Variants
SamplesNA19238
Known GenesLILRA6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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