A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229584



Internal ID22371389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:114799448..114814430hg38UCSC Ensembl
Outerchr7:114439503..114454485hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3814983
hg1914983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277377
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229584
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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