A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147311



Internal ID346493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75173252..75178758hg38UCSC Ensembl
chrX:74393087..74398593hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg385507
hg195507
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740787
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147311
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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