A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463744



Internal ID21121297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71779418..71890463hg38UCSC Ensembl
chr12:72173198..72284243hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38111046
hg19111046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193199
Samples
Known GenesMRS2P2, RAB21, TBC1D15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463744
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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