A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558247



Internal ID15998970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33328569..34092821hg38UCSC Ensembl
Innerchr12:33481504..34245756hg19UCSC Ensembl
Innerchr12:33372771..34137023hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38764253
hg19764253
hg18764253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2502n54
Supporting Variantsnssv792628
Samples
Known GenesALG10, SYT10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558247
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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