A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554698



Internal ID327876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134896762..134896813hg38UCSC Ensembl
chrX:134030792..134030843hg19UCSC Ensembl
CytobandXq26.3
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 Variantsnssv17742453
Samples
Known GenesMOSPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554698
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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