A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217055



Internal ID22362838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12192959..12435833hg38UCSC Ensembl
chr8:12050468..12293342hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38242875
hg19242875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14437807
SamplesHG00514
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B1, FAM86B2, FAM90A25P, LOC100133267, LOC649352
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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