A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470829



Internal ID21128382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39968932..41209513hg38UCSC Ensembl
chr12:40362734..41603315hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381240582
hg191240582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187739
Samples
Known GenesCNTN1, LRRK2, MUC19, PDZRN4, SLC2A13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470829
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