A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548938



Internal ID16336347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199064633..199117967hg38UCSC Ensembl
Innerchr1:199033762..199087095hg19UCSC Ensembl
Innerchr1:197300385..197353718hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3853335
hg1953334
hg1853334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174030
SamplesHGDP00623
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548938
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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