A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047801



Internal ID99727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60335057..60335139hg38UCSC Ensembl
chr11:60102530..60102612hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493940
Supporting Variants
Samples
Known GenesMS4A6E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047801
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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