A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253569



Internal ID22058179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241264054..241264054hg38UCSC Ensembl
chr2:242203469..242203469hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853465
Samples
Known GenesHDLBP
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253569
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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