A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215037



Internal ID22361494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:91580352..91596858hg38UCSC Ensembl
Outerchr7:91209667..91226173hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3816507
hg1916507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277558, nssv14277562, nssv14277561, nssv14277560, nssv14277557, nssv14277556, nssv14277559
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215037
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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