A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478596



Internal ID256148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120872657..120872803hg38UCSC Ensembl
chr7:120512711..120512857hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004962
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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