A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193199



Internal ID20760239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71779418..71890463hg38UCSC Ensembl
chr12:72173198..72284243hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38111046
hg19111046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463744
Supporting Variants
Samples
Known GenesMRS2P2, RAB21, TBC1D15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193199
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