A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576507



Internal ID16017230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12657196..12673188hg38UCSC Ensembl
Innerchr18:12657195..12673187hg19UCSC Ensembl
Innerchr18:12647195..12663187hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3815993
hg1915993
hg1815993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878388
Samples
Known GenesCEP76, PSMG2, SPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576507
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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