A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204646



Internal ID22353462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40212130..40212184hg38UCSC Ensembl
chr3:40253621..40253675hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435265, nssv14306057, nssv14452743, nssv14306058, nssv14306055, nssv14306056, nssv14306060, nssv14306059
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesEIF1B-AS1, MYRIP
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)nsv3204646
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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