A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175280



Internal ID22333271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102885491..102885830hg38UCSC Ensembl
chr10:104645248..104645587hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1036n152
Supporting Variantsnssv14412664, nssv14439991
SamplesHG00733, HG00514
Known GenesAS3MT, C10orf32-ASMT
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)nsv3175280
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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