A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440974



Internal ID219465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123749687..123950374hg38UCSC Ensembl
chr3:123468534..123669221hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38200688
hg19200688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938761
Samples
Known GenesCCDC14, MYLK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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