A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736855



Internal ID160521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48542429..48542486hg38UCSC Ensembl
chrX:48400817..48400874hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421214
Supporting Variants
Samples
Known GenesTBC1D25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736855
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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