A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253714



Internal ID22058324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13348910..13348910hg38UCSC Ensembl
chr3:13390410..13390410hg19UCSC Ensembl
Cytoband3p25.1
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 Variantsnssv17852088
Samples
Known GenesNUP210
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253714
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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