A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458603



Internal ID21116156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38565402..38730488hg38UCSC Ensembl
chr12:38959204..39124290hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38165087
hg19165087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186411
Samples
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458603
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