A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521171



Internal ID297467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73328417..73355521hg38UCSC Ensembl
chr17:71324556..71351660hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3827105
hg1927105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714489
Samples
Known GenesSDK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521171
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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