A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851485



Internal ID22035128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18934830..18934830hg38UCSC Ensembl
chrX:18952948..18952948hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252341
Supporting Variants
Samples
Known GenesPHKA2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851485
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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