A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740358



Internal ID164024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64267372..64270779hg38UCSC Ensembl
chrX:63487252..63490659hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429987
Supporting Variants
Samples
Known GenesMTMR8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740358
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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