A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197777



Internal ID22347615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229157347..229157438hg38UCSC Ensembl
chr1:229293094..229293185hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312060, nssv14312061
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197777
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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