A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415047



Internal ID194310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111193371..111193531hg38UCSC Ensembl
chrX:110436599..110436759hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741979
Samples
Known GenesPAK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415047
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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