A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468986



Internal ID246779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29577254..29584978hg38UCSC Ensembl
chr6:29545031..29552755hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg387725
hg197725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982477
Samples
Known GenesSNORD32B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468986
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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