A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138126



Internal ID337308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68344000..68510542hg38UCSC Ensembl
chrX:67563842..67730384hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38166543
hg19166543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740523
Samples
Known GenesOPHN1, YIPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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