A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530398



Internal ID306385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71718841..71722208hg38UCSC Ensembl
chr17:69714982..69718349hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg383368
hg193368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714396
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530398
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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