A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472242



Internal ID21129795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47031801..47035100hg38UCSC Ensembl
chr12:47425584..47428883hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000992
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472242
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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