A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146556



Internal ID345761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29263330..29263428hg38UCSC Ensembl
chr22:29659319..29659417hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728353
Samples
Known GenesRHBDD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146556
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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