A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540450



Internal ID315221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140514502..140514521hg38UCSC Ensembl
chrX:139596667..139596686hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742694
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540450
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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