A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252784



Internal ID22057394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102273888..102273888hg38UCSC Ensembl
chr2:102890348..102890348hg19UCSC Ensembl
Cytoband2q12.1
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 Variantsnssv17852468
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252784
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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