A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740143



Internal ID163809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54318287..54318593hg38UCSC Ensembl
chrX:54344720..54345026hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428851
Supporting Variants
Samples
Known GenesWNK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740143
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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