A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885635



Internal ID22660620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119900344..119924641hg38UCSC Ensembl
chrX:119034307..119058604hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3824298
hg1924298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449159
Samples
Known GenesAKAP14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885635
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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