A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712406



Internal ID136072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29138218..29138794hg38UCSC Ensembl
chr17:27465236..27465812hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532350
Supporting Variants
Samples
Known GenesMYO18A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712406
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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