A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228606



Internal ID22370737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22361165..22396852hg38UCSC Ensembl
Outerchr7:22400784..22436471hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3835688
hg1935688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277314, nssv14277313
SamplesHG00512, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228606
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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