A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545111



Internal ID15985834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3167572..3169900hg38UCSC Ensembl
Innerchr1:3084136..3086464hg19UCSC Ensembl
Innerchr1:3073996..3076324hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53n54
Supporting Variantsnssv708795, nssv708797, nssv708796, nssv708798, nssv708799
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545111
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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