A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215651



Internal ID22361907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49907554..49907627hg38UCSC Ensembl
chr20:48524091..48524164hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433575, nssv14299454, nssv14299455
SamplesHG00512, HG00514
Known GenesSPATA2
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)nsv3215651
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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