A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395414



Internal ID22453284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36679173..36679224hg38UCSC Ensembl
chr22:37075218..37075269hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949493
Supporting Variants
Samples
Known GenesCACNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395414
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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