A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545116



Internal ID15985839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3167623..3168255hg38UCSC Ensembl
Innerchr1:3084187..3084819hg19UCSC Ensembl
Innerchr1:3074047..3074679hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38633
hg19633
hg18633
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv56n54
Supporting Variantsnssv708811, nssv708823, nssv708810, nssv708812, nssv708827, nssv708807, nssv708826, nssv708817, nssv708814, nssv708813, nssv708818, nssv708815, nssv708809, nssv708819, nssv708806, nssv708816, nssv708825, nssv708824, nssv708821, nssv708822, nssv708820, nssv708808
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545116
Frequency
Sample Size17421
Observed Gain11
Observed Loss11
Observed Complex0
Frequencyn/a


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