A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730792



Internal ID154458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9747364..9762536hg38UCSC Ensembl
chr20:9728012..9743184hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3815173
hg1915173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528235
Supporting Variants
Samples
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730792
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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