A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048601



Internal ID100275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78222525..78222580hg38UCSC Ensembl
chr11:77933571..77933626hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497123
Supporting Variants
Samples
Known GenesGAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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