A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18124492



Internal ID20691532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123895268..126729429hg38UCSC Ensembl
chr5:123230962..126065121hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382834162
hg192834160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399933
Supporting Variants
Samples
Known GenesALDH7A1, C5orf48, GRAMD3, LOC101927488, LOC102546228, PHAX, ZNF608
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18124492
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00027


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