A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv899425



Internal ID6306436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90946693..91729930hg19UCSC Ensembl
Outerchr12:90941716..91742612hg19UCSC Ensembl
Innerchr12:89470824..90254061hg18UCSC Ensembl
Outerchr12:89465847..90266743hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1522351
SamplesSP52913
Known GenesC12orf12, C12orf37, DCN, EPYC, KERA, LUM
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv899425
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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