A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195167



Internal ID22345385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138143607..138143673hg38UCSC Ensembl
chr5:137479296..137479362hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325729, nssv14325728, nssv14325727, nssv14436842, nssv14325730
SamplesHG00512, HG00731, HG00733, HG00514
Known GenesBRD8
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)nsv3195167
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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