A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260073



Internal ID22064683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11826994..11826994hg38UCSC Ensembl
chr1:11887051..11887051hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17856605
Samples
Known GenesCLCN6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260073
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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