A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205028



Internal ID22353787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99862726..99862801hg38UCSC Ensembl
chr4:100783883..100783958hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14315443, nssv14434791, nssv14315442, nssv14315439, nssv14315436, nssv14315441, nssv14315444, nssv14315440, nssv14454475, nssv14315438, nssv14315437
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDAPP1
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)nsv3205028
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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