A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv230n152



Internal ID22815933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56776935..56777274hg38UCSC Ensembl
chr1:57242608..57242947hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3521849, nsv3179093
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC1orf168
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)dgv230n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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