A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239382



Internal ID22374404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50951119..50982185hg38UCSC Ensembl
Outerchr19:51454375..51485441hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264793
SamplesHG00732
Known GenesKLK5, KLK6, KLK7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239382
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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