A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391972



Internal ID22253619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9881368..9881672hg38UCSC Ensembl
chr17:9784685..9784989hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522145
Supporting Variants
SamplesNA19238
Known GenesGLP2R
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391972
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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