A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468508



Internal ID246305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10620250..10620688hg38UCSC Ensembl
chr5:10620362..10620800hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962547
Samples
Known GenesANKRD33B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468508
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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