A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542757



Internal ID22411828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17722270..17722438hg38UCSC Ensembl
chr19:17833079..17833247hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286934, nssv14286935, nssv14286937, nssv14286938, nssv14286936, nssv14286933
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesMAP1S
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542757
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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