A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974245



Internal ID22749180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94618420..94618420hg38UCSC Ensembl
chr13:95270674..95270674hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375856
Samples
Known GenesGPR180
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974245
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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