A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213150



Internal ID20780190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123175457..123235317hg38UCSC Ensembl
chr5:122511151..122571011hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3859861
hg1959861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412171
Supporting Variants
Samples
Known GenesPRDM6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213150
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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