A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172996



Internal ID22332096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25346559..25346784hg38UCSC Ensembl
chr8:25204075..25204300hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462673, nssv14389507, nssv14438972
SamplesNA19240, HG00733, HG00514
Known GenesDOCK5
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)nsv3172996
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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