A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457577



Internal ID22508461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:97350048..97351553hg38UCSC Ensembl
chrX:96605047..96606552hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg381506
hg191506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870556
Supporting Variants
Samples
Known GenesDIAPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457577
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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