A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424967



Internal ID203941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102704001..102706331hg38UCSC Ensembl
chrX:101958929..101961259hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382331
hg192331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741759
Samples
Known GenesARMCX5-GPRASP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424967
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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