A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522653



Internal ID298916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64757693..64818134hg38UCSC Ensembl
chr17:62753811..62814252hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3860442
hg1960442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714088
Samples
Known GenesLOC146880, MIR6080, PLEKHM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522653
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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