A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248567



Internal ID22053177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108212150..108212150hg38UCSC Ensembl
chr12:108605927..108605927hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844161
Samples
Known GenesWSCD2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248567
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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