A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473450



Internal ID21131003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78138201..78246200hg38UCSC Ensembl
chr12:78531981..78639980hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38108000
hg19108000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196899
Samples
Known GenesNAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473450
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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