A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487122



Internal ID21144675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113151257..113155024hg38UCSC Ensembl
chr12:113589062..113592829hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383768
hg193768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186352
Samples
Known GenesCCDC42B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487122
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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