A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253477



Internal ID22058087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227170980..227170980hg38UCSC Ensembl
chr2:228035696..228035696hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853252
Samples
Known GenesCOL4A3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253477
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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