A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249677



Internal ID22054287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22571019..22571019hg38UCSC Ensembl
chr14:23039917..23039917hg19UCSC Ensembl
Cytoband14q11.2
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 Variantsnssv17845764
Samples
Known GenesDAD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249677
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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