A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7648n152



Internal ID22823351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177584024..177598980hg38UCSC Ensembl
chr5:177011025..177025981hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814957
hg1914957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3218623, nsv3211311
SamplesNA19238, HG00731, NA19240
Known GenesTMED9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7648n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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