A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061548



Internal ID18804079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2163157..2631423hg38UCSC Ensembl
Innerchr18:2163157..2631422hg19UCSC Ensembl
Innerchr18:2153157..2621422hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38468267
hg19468266
hg18468266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564056, nssv3564057
Samples
Known GenesMETTL4, NDC80
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061548
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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