A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251871



Internal ID22056481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46574350..46574350hg38UCSC Ensembl
chr2:46801489..46801489hg19UCSC Ensembl
Cytoband2p21
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 Variantsnssv17851267
Samples
Known GenesLOC100506142, RHOQ
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251871
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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