A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475206



Internal ID21132759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49128001..49131700hg38UCSC Ensembl
chr12:49521784..49525483hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195595
Samples
Known GenesTUBA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475206
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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