A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18123049



Internal ID20690089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109395847..109398987hg38UCSC Ensembl
chr5:108731548..108734688hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg383141
hg193141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409932
Supporting Variants
Samples
Known GenesPJA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18123049
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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