A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741992



Internal ID165658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111890526..111890588hg38UCSC Ensembl
chrX:111133754..111133816hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415436
Supporting Variants
Samples
Known GenesTRPC5, TRPC5OS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741992
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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