A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469679



Internal ID21127232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68147596..68304028hg38UCSC Ensembl
chr12:68541376..68697808hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38156433
hg19156433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180700
Samples
Known GenesIFNG, IL22, IL26, MDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469679
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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