A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486239



Internal ID263608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143329388..143329520hg38UCSC Ensembl
chr7:143026481..143026613hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003848
Samples
Known GenesCLCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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