A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548972



Internal ID16336381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199502488..199614909hg38UCSC Ensembl
Innerchr1:199471616..199584037hg19UCSC Ensembl
Innerchr1:197738239..197850660hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38112422
hg19112422
hg18112422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174032
SamplesHGDP01368
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548972
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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