A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420633



Internal ID199730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70199953..70228983hg38UCSC Ensembl
chrX:69419803..69448833hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3829031
hg1929031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740597
Samples
Known GenesDGAT2L6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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