A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559416



Internal ID16346825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74464177..74528943hg38UCSC Ensembl
Innerchr12:74857957..74922723hg19UCSC Ensembl
Innerchr12:73144224..73208990hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3864767
hg1964767
hg1864767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2720n54
Supporting Variantsnssv1175875, nssv1175876
Samples1780862310_A, 1780862109_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559416
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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