A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521872



Internal ID298152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32530681..32600986hg38UCSC Ensembl
chr17:30857699..30928004hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3870306
hg1970306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712660
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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