A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429538



Internal ID22487408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119079925..119095785hg38UCSC Ensembl
chr5:118415620..118431480hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3815861
hg1915861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896408
Supporting Variants
Samples
Known GenesDMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429538
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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