A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470178



Internal ID21127731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44951901..44953400hg38UCSC Ensembl
chr12:45345684..45347183hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180190
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470178
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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