A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472199



Internal ID21129752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55327047..55337056hg38UCSC Ensembl
chr12:55720831..55730840hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3810010
hg1910010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001773
Samples
Known GenesOR6C3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472199
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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