A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478196



Internal ID255759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148969120..148969679hg38UCSC Ensembl
chr7:148666212..148666771hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005662
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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