A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263388



Internal ID22202640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50902643..50912700hg38UCSC Ensembl
Outerchr19:51405899..51415956hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3810058
hg1910058
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223341
Supporting Variants
SamplesHG00732
Known GenesKLK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263388
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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