A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6777n152



Internal ID22822480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102937334..102970159hg38UCSC Ensembl
chr4:103858491..103891316hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3832826
hg1932826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3191885, nsv3197232, nsv3193875
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC9B1
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6777n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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