A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739529



Internal ID163195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19345383..19345668hg38UCSC Ensembl
chrX:19363501..19363786hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424004
Supporting Variants
Samples
Known GenesPDHA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739529
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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