A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520684



Internal ID297003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18322274..18322473hg38UCSC Ensembl
chr17:18225588..18225787hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711901
Samples
Known GenesSMCR8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520684
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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