A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420882



Internal ID199973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16757558..16779385hg38UCSC Ensembl
chrX:16775681..16797508hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3821828
hg1921828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739447
Samples
Known GenesSYAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer