A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730779



Internal ID154445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9569690..9570001hg38UCSC Ensembl
chr20:9550337..9550648hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530272
Supporting Variants
Samples
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730779
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.010927


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