A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492489



Internal ID21150042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122556536..122567174hg38UCSC Ensembl
chr12:123041083..123051721hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810639
hg1910639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186625
Samples
Known GenesKNTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492489
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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