A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468731



Internal ID21126284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56334767..56556825hg38UCSC Ensembl
chr12:56728551..56950609hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38222059
hg19222059
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185029
Samples
Known GenesAPOF, GLS2, IL23A, MIP, RBMS2, SPRYD4, STAT2, TIMELESS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468731
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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