A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205577



Internal ID22354250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118858370..118858579hg38UCSC Ensembl
chr1:119400993..119401202hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285740
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205577
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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