A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736890



Internal ID160556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49073106..49073304hg38UCSC Ensembl
chrX:48930765..48930963hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423508
Supporting Variants
Samples
Known GenesPRAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736890
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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