A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17128624



Internal ID21416666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50082174..50082235hg38UCSC Ensembl
chr22:50520603..50520664hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5591759
Supporting Variants
SamplesHG00731
Known GenesMLC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17128624
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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