A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492544



Internal ID21150097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108269226..108270760hg38UCSC Ensembl
chr12:108663003..108664537hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381535
hg191535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177187
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492544
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer