A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525699



Internal ID301849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32282728..32283429hg38UCSC Ensembl
chr17:30609747..30610448hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712641
Samples
Known GenesRHBDL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525699
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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