A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484957



Internal ID21142510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112099121..112100263hg38UCSC Ensembl
chr12:112536925..112538067hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178955
Samples
Known GenesNAA25
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484957
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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