A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126533



Internal ID20693573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149045464..149045970hg38UCSC Ensembl
chr5:148425027..148425533hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399200
Supporting Variants
Samples
Known GenesSH3TC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126533
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00441


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