A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177938



Internal ID22334713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44645746..44646057hg38UCSC Ensembl
chr6:44613483..44613794hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7879n152
Supporting Variantsnssv14453787, nssv14412271
SamplesNA19240, HG00733
Known Genes
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)nsv3177938
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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