A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547358



Internal ID15988081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108149160..108211989hg38UCSC Ensembl
Innerchr1:108691782..108754611hg19UCSC Ensembl
Innerchr1:108493305..108556134hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3862830
hg1962830
hg1862830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720834
Samples
Known GenesSLC25A24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547358
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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