A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125485



Internal ID20692525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122013787..122014134hg38UCSC Ensembl
chr5:121349482..121349829hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411186
Supporting Variants
Samples
Known GenesSRFBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125485
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00096


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