A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415066



Internal ID22472936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139359427..139365265hg38UCSC Ensembl
chr5:138695116..138700954hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385839
hg195839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896809
Supporting Variants
Samples
Known GenesPAIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415066
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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