A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130521



Internal ID20697561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43512786..43516671hg38UCSC Ensembl
chr5:43512888..43516773hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383886
hg193886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6395309
Supporting Variants
Samples
Known GenesC5orf34
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130521
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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