A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742468



Internal ID166134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135247381..135253381hg38UCSC Ensembl
chrX:134381328..134387329hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg386001
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138615
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000259134


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