A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169813



Internal ID21313624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49885473..49898744hg38UCSC Ensembl
Outerchr18:49882671..49900800hg38UCSC Ensembl
Innerchr18:47411843..47425114hg19UCSC Ensembl
Outerchr18:47409041..47427170hg19UCSC Ensembl
Innerchr18:45665841..45679112hg18UCSC Ensembl
Outerchr18:45663039..45681168hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3818130
hg1918130
hg1818130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241399
SamplesNGO_24
Known GenesMYO5B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169813
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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