A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478543



Internal ID21136096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123143105..123196140hg38UCSC Ensembl
chr12:123627652..123680687hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853036
hg1953036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180344
Samples
Known GenesMPHOSPH9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478543
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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