A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458361



Internal ID21115914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77996077..78246165hg38UCSC Ensembl
chr12:78389857..78639945hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38250089
hg19250089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186886
Samples
Known GenesNAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458361
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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