A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418808



Internal ID197965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119898551..119898898hg38UCSC Ensembl
chrX:119032514..119032861hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737350
Samples
Known GenesAKAP14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418808
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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