A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287846



Internal ID22386254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92917791..92917885hg38UCSC Ensembl
chr7:92547105..92547199hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8647n152
Supporting Variantsnssv14437976, nssv14373005
SamplesNA19240, HG00514
Known Genes
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)nsv3287846
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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