A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712404



Internal ID136070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29124493..29124570hg38UCSC Ensembl
chr17:27451511..27451588hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520530
Supporting Variants
Samples
Known GenesMYO18A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712404
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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