A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488865



Internal ID266159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:69391243..69392845hg38UCSC Ensembl
chr7:68856229..68857831hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999930
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488865
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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