A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868159



Internal ID22643094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49706604..51621538hg38UCSC Ensembl
chrX:49471207..51364390hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381914935
hg191893184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17469206
Samples
Known GenesAKAP4, BMP15, CCNB3, CLCN5, DGKK, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660, NUDT10, NUDT11, PAGE4, SHROOM4, USP27X, USP27X-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868159
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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