A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469375



Internal ID21126928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104975701..104987300hg38UCSC Ensembl
chr12:105369479..105381078hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3811600
hg1911600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190328
Samples
Known GenesC12orf45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469375
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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