A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18123138



Internal ID20690178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113330801..113334000hg38UCSC Ensembl
chr5:112666498..112669697hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402723
Supporting Variants
Samples
Known GenesMCC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18123138
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00167


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