A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576529



Internal ID16017252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13606185..14150725hg38UCSC Ensembl
Innerchr18:13606184..14150724hg19UCSC Ensembl
Innerchr18:13596184..14140724hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38544541
hg19544541
hg18544541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878447
Samples
Known GenesFAM210A, LDLRAD4, MC2R, MC5R, MIR4526, RNMT, ZNF519
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576529
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer