A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558252



Internal ID16345661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33371147..34615934hg38UCSC Ensembl
Innerchr12:33524082..34768869hg19UCSC Ensembl
Innerchr12:33415349..34660136hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381244788
hg191244788
hg181244788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2503n54
Supporting Variantsnssv792632
Samples
Known GenesALG10, SYT10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558252
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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