A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557649



Internal ID15998372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16939738..17019648hg38UCSC Ensembl
Innerchr12:17092672..17172582hg19UCSC Ensembl
Innerchr12:16983939..17063849hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3879911
hg1979911
hg1879911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789414
Samples
Known GenesSKP1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557649
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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