A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471050



Internal ID248795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137856777..138124570hg38UCSC Ensembl
chr5:137192466..137460259hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38267794
hg19267794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974569
Samples
Known GenesFAM13B, MYOT, NME5, PKD2L2, WNT8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471050
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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