A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047261



Internal ID99350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77451597..77451898hg38UCSC Ensembl
chr11:77162642..77162943hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496022
Supporting Variants
Samples
Known GenesPAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047261
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.031533


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