A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6490064



Internal ID21147617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109443798..109454624hg38UCSC Ensembl
chr12:109881603..109892429hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3810827
hg1910827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185282
Samples
Known GenesKCTD10, MYO1H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6490064
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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