A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139013



Internal ID338197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101042542..101049050hg38UCSC Ensembl
chrX:100297531..100304039hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg386509
hg196509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741704
Samples
Known GenesTRMT2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139013
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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