A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542041



Internal ID316527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45098518..45098518hg38UCSC Ensembl
chrX:44957763..44957763hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736697
Samples
Known GenesKDM6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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