A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8348n152



Internal ID22824051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1236017..1277783hg38UCSC Ensembl
chr7:1275653..1317419hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3841767
hg1941767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223383, nsv3211799, nsv3229251
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesUNCX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8348n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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