A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992282



Internal ID62313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6786971..7077242hg38UCSC Ensembl
chr7:6826602..7116873hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38290272
hg19290272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473170
Supporting Variants
Samples
Known GenesCCZ1B, LOC100131257, RSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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