A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173379



Internal ID22332293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241197238..241197553hg38UCSC Ensembl
chr1:241360538..241360853hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv639n152
Supporting Variantsnssv14434971, nssv14459062, nssv14409321
SamplesNA19240, HG00733, HG00514
Known GenesRGS7
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)nsv3173379
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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