A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7302n152



Internal ID22823005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41223342..41244676hg38UCSC Ensembl
chr5:41223444..41244778hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3821335
hg1921335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3193147, nsv3526397
SamplesHG00512
Known GenesC6
MethodOptical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PlatformBioNano Genomics
Illumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7302n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer