A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421680



Internal ID200744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119083798..119083934hg38UCSC Ensembl
chrX:118217761..118217897hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737305
Samples
Known GenesKIAA1210
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421680
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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