A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6137959



Internal ID337140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24619768..24619824hg38UCSC Ensembl
chrX:24637885..24637941hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739744
Samples
Known GenesPCYT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6137959
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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