A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213847



Internal ID22360660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:112678409..112706168hg38UCSC Ensembl
Outerchr7:112318464..112346223hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3827760
hg1927760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278775, nssv14278774
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213847
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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