A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727857



Internal ID151523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22196265..22899568hg38UCSC Ensembl
chr22:22550665..23241748hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38703304
hg19691084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146884
Supporting Variants
Samples
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, VPREB1, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727857
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004997


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