A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530548



Internal ID306527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76319100..76319668hg38UCSC Ensembl
chr17:74315181..74315749hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38569
hg19569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714714
Samples
Known GenesPRPSAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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