A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940642



Internal ID22716053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50996430..50996492hg38UCSC Ensembl
chr19:51499686..51499748hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394438
Samples
Known GenesKLK8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940642
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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