A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713815



Internal ID137481
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 StatusS
Merged Variantsnsv5520588
Supporting Variants
Samples
Known GenesC17orf47, SEPT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713815
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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