A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467665



Internal ID21125218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83074323..83081634hg38UCSC Ensembl
chr12:83468102..83475413hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387312
hg197312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187019
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467665
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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