A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230104



Internal ID22371737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18290857..18297161hg38UCSC Ensembl
chrUn_gl000212:119609..125913hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg386305
hg196305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366060, nssv14366059
SamplesNA19239, HG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230104
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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