A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557239



Internal ID330342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:87663439..87663490hg38UCSC Ensembl
chrX:86918439..86918490hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741276
Samples
Known GenesKLHL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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