A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529188



Internal ID305220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68428208..68429620hg38UCSC Ensembl
chr17:66424349..66425761hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381413
hg191413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714221
Samples
Known GenesPRKAR1A, WIPI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529188
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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