A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18109683



Internal ID20676723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123232698..123240678hg38UCSC Ensembl
chr4:124153853..124161833hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg387981
hg197981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6382095
Supporting Variants
Samples
Known GenesSPATA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18109683
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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