A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv639n152



Internal ID22816342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241197238..241197553hg38UCSC Ensembl
chr1:241360538..241360853hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3173379, nsv3521047
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRGS7
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv639n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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