A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391239



Internal ID22449109
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 Variantsnsv5954714
Supporting Variants
Samples
Known GenesMLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391239
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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