A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248663



Internal ID22053273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122936232..122936232hg38UCSC Ensembl
chr12:123420779..123420779hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846178
Samples
Known GenesABCB9
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248663
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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