A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv636n152



Internal ID22816339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240562826..240563020hg38UCSC Ensembl
chr1:240726126..240726320hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281285, nsv3524989
SamplesNA19238, NA19240
Known GenesGREM2
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)dgv636n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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