A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463676



Internal ID21121229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100055590..100257781hg38UCSC Ensembl
chr12:100449368..100651559hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38202192
hg19202192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188232
Samples
Known GenesACTR6, DEPDC4, GOLGA2P5, MIR1827, UHRF1BP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463676
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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