A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416713



Internal ID195932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13239066..13240619hg38UCSC Ensembl
chrX:13257185..13258738hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381554
hg191554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739318
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416713
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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