A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577654



Internal ID16365063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:74445966..74467617hg38UCSC Ensembl
Innerchr18:72113201..72134852hg19UCSC Ensembl
Innerchr18:70264181..70285832hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3821652
hg1921652
hg1821652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150632
Samples1780862575_A
Known GenesFAM69C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577654
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