A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252077



Internal ID22056687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31203226..31203226hg38UCSC Ensembl
chr22:31599212..31599212hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851786
Samples
Known GenesRNF185
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252077
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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