A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712672



Internal ID136338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32793125..32793573hg38UCSC Ensembl
chr17:31120143..31120591hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533672
Supporting Variants
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712672
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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