A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055468



Internal ID19144687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:51189048..51227206hg38UCSC Ensembl
Innerchr18:48715418..48753576hg19UCSC Ensembl
Innerchr18:46969416..47007574hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3838159
hg1938159
hg1838159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726075, nssv3565444
Samples
Known GenesMEX3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055468
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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