A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv792633



Internal ID16086589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33371147..34649407hg38UCSC Ensembl
Innerchr12:33524082..34802342hg19UCSC Ensembl
Innerchr12:33415349..34693609hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381278261
hg191278261
hg181278261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558253
Supporting Variants
Samples
Known GenesALG10, SYT10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv792633
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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