A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527269



Internal ID303371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76319043..76319572hg38UCSC Ensembl
chr17:74315124..74315653hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714713
Samples
Known GenesPRPSAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527269
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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