A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424490



Internal ID203479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72210929..72221421hg38UCSC Ensembl
chrX:71430779..71441271hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3810493
hg1910493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740687
Samples
Known GenesERCC6L, PIN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424490
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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