A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851475



Internal ID22035118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16761241..16761241hg38UCSC Ensembl
chrX:16779364..16779364hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252330
Supporting Variants
Samples
Known GenesSYAP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851475
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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