A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545109



Internal ID15985832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3167572..3168152hg38UCSC Ensembl
Innerchr1:3084136..3084716hg19UCSC Ensembl
Innerchr1:3073996..3074576hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38581
hg19581
hg18581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n54
Supporting Variantsnssv708778, nssv708781, nssv708779, nssv708782, nssv708780
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545109
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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