A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6037776



Internal ID21947119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1780766..1828240hg38UCSC Ensembl
chr12:1889932..1937406hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3847475
hg1947475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17602760
Samples
Known GenesADIPOR2, CACNA2D4, LRTM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6037776
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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