A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173035



Internal ID22332119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35996511..35996744hg38UCSC Ensembl
chr1:36462112..36462345hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421207
SamplesHG00514
Known GenesAGO3
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)nsv3173035
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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