A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972955



Internal ID49340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115522358..115522409hg38UCSC Ensembl
chr5:114858055..114858106hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396316
Supporting Variants
Samples
Known GenesFEM1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972955
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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