A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000177



Internal ID67704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102151998..102154126hg38UCSC Ensembl
chr7:101795278..101797406hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485542
Supporting Variants
Samples
Known GenesCUX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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