A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547662



Internal ID321488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23116098..23117265hg38UCSC Ensembl
chr22:23458285..23459452hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727964
Samples
Known GenesGNAZ, RTDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547662
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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