A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284945



Internal ID22383317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98140129..98140179hg38UCSC Ensembl
chr7:97769441..97769491hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8661n152
Supporting Variantsnssv14377731, nssv14460221
SamplesNA19240, HG00733
Known GenesLMTK2
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)nsv3284945
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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