A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436363



Internal ID22494233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132391626..132392916hg38UCSC Ensembl
chrX:131525654..131526944hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876868
Supporting Variants
Samples
Known GenesMBNL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436363
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