A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427334



Internal ID206239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16854741..17048924hg38UCSC Ensembl
chrX:16872864..17067047hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38194184
hg19194184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739453
Samples
Known GenesRBBP7, REPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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