A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138543



Internal ID337727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111815443..111815509hg38UCSC Ensembl
chrX:111058671..111058737hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741991
Samples
Known GenesTRPC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138543
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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