A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519557



Internal ID15446850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12417906..12431507hg38UCSC Ensembl
Innerchr18:12417905..12431506hg19UCSC Ensembl
Innerchr18:12407905..12421506hg18UCSC Ensembl
Innerchr18:12407905..12421506hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3813602
hg1913602
hg1813602
hg1713602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656838, nssv683891
Samples
Known GenesSLMO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519557
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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