A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974790



Internal ID50575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150652608..150670289hg38UCSC Ensembl
chr5:150032170..150049851hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3817682
hg1917682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461461
Supporting Variants
Samples
Known GenesMYOZ3, SYNPO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974790
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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