A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558876



Internal ID16346285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51197584..51218946hg38UCSC Ensembl
Innerchr12:51591367..51612730hg19UCSC Ensembl
Innerchr12:49877634..49898997hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3821363
hg1921364
hg1821364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795908
Samples
Known GenesPOU6F1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558876
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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