A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545616



Internal ID15986339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15701878..15768821hg38UCSC Ensembl
Innerchr1:16028373..16095316hg19UCSC Ensembl
Innerchr1:15900960..15967903hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3866944
hg1966944
hg1866944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv151n54
Supporting Variantsnssv1173775
SamplesHGDP00160
Known GenesFBLIM1, PLEKHM2, SLC25A34, TMEM82
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545616
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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