A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476922



Internal ID254521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92690093..92723721hg38UCSC Ensembl
chr7:92319407..92353035hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3833629
hg1933629
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999073
Samples
Known GenesCDK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476922
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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