A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8944n152



Internal ID22824647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158583682..158604500hg38UCSC Ensembl
chr7:158376374..158397192hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3820819
hg1920819
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229764, nsv3229559, nsv3226715
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR5707, PTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8944n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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