A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463756



Internal ID21121309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78882846..78962483hg38UCSC Ensembl
chr12:79276626..79356263hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3879638
hg1979638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181683
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463756
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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