A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522951



Internal ID299203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9617544..9617720hg38UCSC Ensembl
chr20:9598191..9598367hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730783
Samples
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522951
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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