A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525445



Internal ID301606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35002127..35002314hg38UCSC Ensembl
chr20:33589930..33590117hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732136
Samples
Known GenesMYH7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525445
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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