A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132148



Internal ID20699188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72243866..72244493hg38UCSC Ensembl
chr5:71539693..71540320hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403746
Supporting Variants
Samples
Known GenesMRPS27
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132148
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00053


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