A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170216



Internal ID21314277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45502078..45561496hg38UCSC Ensembl
Outerchr19:45490876..45568166hg38UCSC Ensembl
Innerchr19:46005336..46064754hg19UCSC Ensembl
Outerchr19:45994134..46071424hg19UCSC Ensembl
Innerchr19:50697176..50756594hg18UCSC Ensembl
Outerchr19:50685974..50763264hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3877291
hg1977291
hg1877291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246656
SamplesPML_1
Known GenesOPA3, PPM1N, RTN2, VASP
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170216
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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