A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258600



Internal ID22063210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8065195..8065195hg38UCSC Ensembl
chr12:8217791..8217791hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843553
Samples
Known GenesC3AR1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258600
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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