A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415436



Internal ID194693
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 StatusM
Merged Variants
Supporting Variantsnssv17741992
Samples
Known GenesTRPC5, TRPC5OS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415436
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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