A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249330



Internal ID22053940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77581617..77581617hg38UCSC Ensembl
chr13:78155752..78155752hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845059
Samples
Known GenesSCEL
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249330
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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