A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367931



Internal ID22280729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29588958..29590680hg38UCSC Ensembl
chr13:30163095..30164817hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216616
Supporting Variants
SamplesNA19239
Known GenesSLC7A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367931
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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