A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361954



Internal ID22262153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70395155..70395155hg38UCSC Ensembl
chr12:70788935..70788935hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560230
Supporting Variants
SamplesNA19238
Known GenesKCNMB4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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