A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325728



Internal ID22173713
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195167
Supporting Variants
SamplesHG00514
Known GenesBRD8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325728
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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