A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147012



Internal ID346218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:26178787..26184112hg38UCSC Ensembl
chrX:26196904..26202229hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg385326
hg195326
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736238
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147012
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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