A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252531



Internal ID22057141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65119841..65119841hg38UCSC Ensembl
chr2:65346975..65346975hg19UCSC Ensembl
Cytoband2p14
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 Variantsnssv17850204
Samples
Known GenesRAB1A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252531
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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