A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417281



Internal ID196481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130345276..130346542hg38UCSC Ensembl
chrX:129479250..129480516hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737570
Samples
Known GenesSLC25A14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417281
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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