A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447768



Internal ID22505638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106876050..106876106hg38UCSC Ensembl
chrX:106119280..106119336hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874079
Supporting Variants
Samples
Known GenesTBC1D8B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447768
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