A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424986



Internal ID203960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130364752..130365583hg38UCSC Ensembl
chrX:129498726..129499557hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737571
Samples
Known GenesSLC25A14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424986
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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