A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487182



Internal ID21144735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116562688..116597694hg38UCSC Ensembl
chr12:117000493..117035499hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3835007
hg1935007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184780
Samples
Known GenesMAP1LC3B2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487182
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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