A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954763



Internal ID21374832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38854386..38854386hg38UCSC Ensembl
chr12:39248188..39248188hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382180
hg192180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15191902
SamplesHG002
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954763
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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