A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417713



Internal ID196903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13809400..14085488hg38UCSC Ensembl
chrX:13827519..14103607hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38276089
hg19276089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739334
Samples
Known GenesGEMIN8, GPM6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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