A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560049



Internal ID333065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40311917..40311968hg38UCSC Ensembl
chrX:40171170..40171221hg19UCSC Ensembl
CytobandXp11.4
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 Variantsnssv17736504
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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