A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468869



Internal ID21126422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24805218..25158486hg38UCSC Ensembl
chr12:24958152..25311420hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38353269
hg19353269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194076
Samples
Known GenesBCAT1, C12orf77, CASC1, LRMP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468869
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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