A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185652



Internal ID22338783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8343283..8344639hg38UCSC Ensembl
chr17:8246601..8247957hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381357
hg191357
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430650, nssv14405531, nssv14453425
SamplesNA19240, HG00733, HG00514
Known GenesODF4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3185652
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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