A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6399933



Internal ID21057486
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 StatusM
Merged Variants
Supporting Variantsnssv18124492
Samples
Known GenesALDH7A1, C5orf48, GRAMD3, LOC101927488, LOC102546228, PHAX, ZNF608
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6399933
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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