A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739331



Internal ID162997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13745893..13745944hg38UCSC Ensembl
chrX:13764012..13764063hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559869
Supporting Variants
Samples
Known GenesOFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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