A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456717



Internal ID234778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13389976..13390042hg38UCSC Ensembl
chr6:13390208..13390274hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979667
Samples
Known GenesGFOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456717
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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