A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196512



Internal ID22346509
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325046, nssv14325048, nssv14325052, nssv14325045, nssv14325051, nssv14325049, nssv14325050, nssv14325047, nssv14325044
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR4461, PCBD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196512
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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