A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6066712



Internal ID21975945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:550889..550889hg38UCSC Ensembl
chr7:590526..590526hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17566771
Samples
Known GenesPRKAR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6066712
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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