A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259937



Internal ID22064547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167746912..167746912hg38UCSC Ensembl
chr3:167464700..167464700hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854984
Samples
Known GenesSERPINI1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259937
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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