A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220480



Internal ID22365160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39045052..39045116hg38UCSC Ensembl
chr8:38902571..38902635hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9139n152
Supporting Variantsnssv14341269, nssv14341272, nssv14341270, nssv14388563, nssv14341271, nssv14341268
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known GenesADAM9
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)nsv3220480
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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