A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557104



Internal ID15997827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3198062..3198474hg38UCSC Ensembl
Innerchr12:3307228..3307640hg19UCSC Ensembl
Innerchr12:3177489..3177901hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38413
hg19413
hg18413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2294n54
Supporting Variantsnssv786727, nssv786729, nssv786728
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557104
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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