A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046480



Internal ID21889794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53852918..53852918hg38UCSC Ensembl
chr2:54080055..54080055hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532209
Samples
Known GenesGPR75, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046480
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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