A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418758



Internal ID197917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68608000..68656542hg38UCSC Ensembl
chrX:67827842..67876384hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3848543
hg1948543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740542
Samples
Known GenesSTARD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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