A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263387



Internal ID22202639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47853326..47959374hg38UCSC Ensembl
Outerchr19:48356583..48462631hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38106049
hg19106049
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212556
Supporting Variants
SamplesHG00732
Known GenesSNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SULT2A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263387
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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