A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576523



Internal ID16363932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12657540..12658545hg38UCSC Ensembl
Innerchr18:12657539..12658544hg19UCSC Ensembl
Innerchr18:12647539..12648544hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381006
hg191006
hg181006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5864n54
Supporting Variantsnssv878408
Samples
Known GenesSPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576523
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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