A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034770



Internal ID90904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50994859..50998301hg38UCSC Ensembl
chr10:52754619..52758061hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383443
hg193443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478803
Supporting Variants
Samples
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034770
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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