A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545119



Internal ID15985842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3167674..3168255hg38UCSC Ensembl
Innerchr1:3084238..3084819hg19UCSC Ensembl
Innerchr1:3074098..3074679hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38582
hg19582
hg18582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55n54
Supporting Variantsnssv708836, nssv708838, nssv708837, nssv708839
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545119
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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