A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519739



Internal ID296085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2927250..2942798hg38UCSC Ensembl
chr17:2830544..2846092hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3815549
hg1915549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710353
Samples
Known GenesRAP1GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519739
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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