A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468561



Internal ID21126114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107320561..108078576hg38UCSC Ensembl
chr12:107714338..108472353hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38758016
hg19758016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179561
Samples
Known GenesASCL4, BTBD11, LOC728739, PRDM4, PWP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468561
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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