A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420048



Internal ID199164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101087200..101093500hg38UCSC Ensembl
chrX:100342189..100348489hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg386301
hg196301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741706
Samples
Known GenesTMEM35
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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