A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133280



Internal ID20700320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66170690..66171309hg38UCSC Ensembl
chr5:65466518..65467137hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407985
Supporting Variants
Samples
Known GenesSREK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133280
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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