A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461293



Internal ID22519176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66606311..66613685hg38UCSC Ensembl
chrX:65826153..65833527hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg387375
hg197375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877336
Supporting Variants
Samples
Known GenesEDA2R
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461293
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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