A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17602818



Internal ID21794865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50365500..50365500hg38UCSC Ensembl
chr12:50759283..50759283hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6085145
Supporting Variants
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17602818
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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