A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054578



Internal ID18797109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71913836..72115561hg38UCSC Ensembl
Innerchr12:72307616..72509341hg19UCSC Ensembl
Innerchr12:70593883..70795608hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38201726
hg19201726
hg18201726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524611
Samples
Known GenesTBC1D15, TPH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054578
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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