A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233229



Internal ID22372701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94658833..94658946hg38UCSC Ensembl
chr5:93994538..93994651hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456929
SamplesHG00733
Known GenesANKRD32
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233229
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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