A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6439n152



Internal ID22822142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7486127..7501238hg38UCSC Ensembl
chr4:7487854..7502965hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3815112
hg1915112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198504, nsv3205191
SamplesHG00512, NA19239
Known GenesSORCS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6439n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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