A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417162



Internal ID196367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22234464..22234558hg38UCSC Ensembl
chrX:22252581..22252675hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739621
Samples
Known GenesPHEX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417162
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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