A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576513



Internal ID16363922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12657248..12658349hg38UCSC Ensembl
Innerchr18:12657247..12658348hg19UCSC Ensembl
Innerchr18:12647247..12648348hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381102
hg191102
hg181102
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5861n54
Supporting Variantsnssv878396, nssv878395
Samples
Known GenesSPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576513
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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