A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286890



Internal ID22385287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107976861..107976931hg38UCSC Ensembl
chr7:107617306..107617376hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8705n152
Supporting Variantsnssv14381336
SamplesNA19240
Known GenesLAMB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3286890
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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