A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325048



Internal ID22206281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134921806..134930803hg38UCSC Ensembl
chr5:134257496..134266493hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg388998
hg198998
Variant TypeCNV duplication
Copy Number280
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196512
Supporting Variants
SamplesHG00732
Known GenesMIR4461, PCBD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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