A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558717



Internal ID331774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13985971..13986022hg38UCSC Ensembl
chrX:14004090..14004141hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739350
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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