A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528870



Internal ID304911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10503000..10530000hg38UCSC Ensembl
chr17:10406317..10433317hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3827001
hg1927001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711389
Samples
Known GenesMYH1, MYH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528870
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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