A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049290



Internal ID100748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:96024204..96024255hg38UCSC Ensembl
chr11:95757368..95757419hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395232
Supporting Variants
Samples
Known GenesMAML2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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