A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv151n54



Internal ID18992327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15686162..15768821hg38UCSC Ensembl
chr1:16012657..16095316hg19UCSC Ensembl
chr1:15885244..15967903hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3882660
hg1982660
hg1882660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545616, nsv545614, nsv545615
SamplesHGDP00160, HGDP00130, HGDP00163
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)dgv151n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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