A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576248



Internal ID16363657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:1080790..1798153hg38UCSC Ensembl
Innerchr18:1080791..1798154hg19UCSC Ensembl
Innerchr18:1070791..1788154hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38717364
hg19717364
hg18717364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5811n54
Supporting Variantsnssv877300
Samples
Known GenesLINC00470
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576248
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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