A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548464



Internal ID16335873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188413334..188486278hg38UCSC Ensembl
Innerchr1:188382465..188455409hg19UCSC Ensembl
Innerchr1:186649088..186722032hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3872945
hg1972945
hg1872945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173938
Samples1780862574_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548464
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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