A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175998



Internal ID22333659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9881369..9881676hg38UCSC Ensembl
chr17:9784686..9784993hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3454n152
Supporting Variantsnssv14405537
SamplesNA19240
Known GenesGLP2R
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3175998
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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