A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429142



Internal ID207997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53427140..53427978hg38UCSC Ensembl
chrX:53454088..53454926hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38839
hg19839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737030
Samples
Known GenesRIBC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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