A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187971



Internal ID20755011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49842160..49846574hg38UCSC Ensembl
chr12:50235943..50240357hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384415
hg194415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468544
Supporting Variants
Samples
Known GenesBCDIN3D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187971
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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