A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218226



Internal ID22363635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1113898..1151045hg38UCSC Ensembl
Outerchr7:1153534..1190681hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3837148
hg1937148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277232, nssv14277229, nssv14277230, nssv14277233, nssv14277231, nssv14277228, nssv14277227, nssv14277234
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesC7orf50
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218226
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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