A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713814



Internal ID137480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58531853..58532031hg38UCSC Ensembl
chr17:56609214..56609392hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531844
Supporting Variants
Samples
Known GenesSEPT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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