A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472319



Internal ID21129872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95216001..95221200hg38UCSC Ensembl
chr12:95609777..95614976hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182883
Samples
Known GenesFGD6, VEZT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472319
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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