A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417280



Internal ID196480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11298843..11298906hg38UCSC Ensembl
chrX:11316963..11317026hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739251
Samples
Known GenesAMELX, ARHGAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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