A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453916



Internal ID22511791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24972218..24975269hg38UCSC Ensembl
chrX:24990335..24993386hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg383052
hg193052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875206
Supporting Variants
Samples
Known GenesPOLA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453916
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