A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595973



Internal ID21544580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22322966..22899623hg38UCSC Ensembl
chr22:22677322..23241803hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38576658
hg19564482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129091
SamplesHG00732
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595973
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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