A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248233



Internal ID22376922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92487989..92488594hg38UCSC Ensembl
chr15:93031219..93031824hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405404
SamplesNA19240
Known GenesC15orf32
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248233
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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