A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177571



Internal ID22334504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143652381..143652462hg38UCSC Ensembl
chr4:144573534..144573615hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466704
SamplesHG00733
Known GenesFREM3
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)nsv3177571
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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