A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471742



Internal ID21129295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77061001..77067500hg38UCSC Ensembl
chr12:77454781..77461280hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195127
Samples
Known GenesE2F7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471742
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