A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244078



Internal ID22048688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12569386..12569386hg38UCSC Ensembl
chr1:12629414..12629414hg19UCSC Ensembl
Cytoband1p36.22
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 Variantsnssv17856770
Samples
Known GenesDHRS3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244078
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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