A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251877



Internal ID22056487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36049752..36049752hg38UCSC Ensembl
chr21:37422050..37422050hg19UCSC Ensembl
Cytoband21q22.12
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 Variantsnssv17850752
Samples
Known GenesSETD4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251877
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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