A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059990



Internal ID18802521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58038174..58063549hg38UCSC Ensembl
Innerchr18:55705406..55730781hg19UCSC Ensembl
Innerchr18:53856404..53881779hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3825376
hg1925376
hg1825376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565468
Samples
Known GenesNEDD4L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059990
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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