A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430681



Internal ID209480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:56495260..56540278hg38UCSC Ensembl
chrX:56521693..56566711hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3845019
hg1945019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740264
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430681
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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