A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17466309



Internal ID22524199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72189046..72196414hg38UCSC Ensembl
chrX:71408896..71416264hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg387369
hg197369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875440
Supporting Variants
Samples
Known GenesPIN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17466309
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