A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520588



Internal ID296913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58536789..58555082hg38UCSC Ensembl
chr17:56614150..56632443hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3818294
hg1918294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713815
Samples
Known GenesC17orf47, SEPT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520588
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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