A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225047



Internal ID22368297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105380601..105380705hg38UCSC Ensembl
chr8:106392829..106392933hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342887, nssv14342886, nssv14342885, nssv14439104, nssv14342884
SamplesHG00731, HG00732, HG00733, HG00513
Known GenesZFPM2
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)nsv3225047
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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