A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055250



Internal ID19144469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:59985406..59996331hg38UCSC Ensembl
Innerchr18:57652638..57663563hg19UCSC Ensembl
Innerchr18:55803618..55814543hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3810926
hg1910926
hg1810926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3368n100
Supporting Variantsnssv3565522, nssv3565523
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055250
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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