A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202688



Internal ID22351814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55898602..55898671hg38UCSC Ensembl
chr5:55194430..55194499hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14322239, nssv14322238, nssv14411858, nssv14322240, nssv14322237, nssv14322236, nssv14322235
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesIL31RA
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)nsv3202688
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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