A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219699



Internal ID22364641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55155855..55233921hg38UCSC Ensembl
Outerchr7:55223548..55301614hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3878067
hg1978067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277471, nssv14277472, nssv14277474, nssv14277473, nssv14277468, nssv14277469, nssv14277470
SamplesHG00512, NA19238, NA19239, HG00731, HG00733, HG00513, HG00514
Known GenesEGFR, EGFR-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219699
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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