A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558249



Internal ID15998972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33371147..34092821hg38UCSC Ensembl
Innerchr12:33524082..34245756hg19UCSC Ensembl
Innerchr12:33415349..34137023hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38721675
hg19721675
hg18721675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2502n54
Supporting Variantsnssv1175714
Samples1780854197_A
Known GenesALG10, SYT10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558249
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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