A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253127



Internal ID22057737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189745029..189745029hg38UCSC Ensembl
chr2:190609755..190609755hg19UCSC Ensembl
Cytoband2q32.2
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 Variantsnssv17853146
Samples
Known GenesANKAR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253127
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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