A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253932



Internal ID22058542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42772300..42772300hg38UCSC Ensembl
chr3:42813792..42813792hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852104
Samples
Known GenesCCDC13
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253932
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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