A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6089614



Internal ID21998847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6360300..6360300hg38UCSC Ensembl
chr12:6469466..6469466hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17600100
Samples
Known GenesSCNN1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6089614
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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