A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426467



Internal ID205400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10009197..10015238hg38UCSC Ensembl
chr1:10069255..10075296hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386042
hg196042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9n206
Supporting Variantsnssv16891312
Samples
Known GenesRBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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