A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740054



Internal ID163720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:36127820..36127898hg38UCSC Ensembl
chrX:36145937..36146015hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431689
Supporting Variants
Samples
Known GenesCHDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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