A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480894



Internal ID258391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:154977889..154977990hg38UCSC Ensembl
chr7:154769599..154769700hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005327
Samples
Known GenesPAXIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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