A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472551



Internal ID21130104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87970101..87983700hg38UCSC Ensembl
chr12:88363878..88377477hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3813600
hg1913600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182856
Samples
Known GenesC12orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472551
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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