A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419423



Internal ID198553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22198183..22957195hg38UCSC Ensembl
chrX:22216300..22975312hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38759013
hg19759013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739616
Samples
Known GenesLOC100873065, PHEX, ZNF645
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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