A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483561



Internal ID21141114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124011101..124015400hg38UCSC Ensembl
chr12:124495648..124499947hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178957
Samples
Known GenesZNF664, ZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483561
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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