A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560049



Internal ID16000772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104137402..104138381hg38UCSC Ensembl
Innerchr12:104531180..104532159hg19UCSC Ensembl
Innerchr12:103055310..103056289hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38980
hg19980
hg18980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2841n54
Supporting Variantsnssv801806
Samples
Known GenesNFYB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560049
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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