A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224533



Internal ID22367935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58505537..58508194hg38UCSC Ensembl
chr17:56582898..56585555hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382658
hg192658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384501, nssv14384338, nssv14389645, nssv14378933, nssv14375699, nssv14380563, nssv14389473, nssv14377482, nssv14388919
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMTMR4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224533
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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