A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740142



Internal ID163808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54284447..54284571hg38UCSC Ensembl
chrX:54310880..54311004hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432837
Supporting Variants
Samples
Known GenesWNK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740142
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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