A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548702



Internal ID16336111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194950119..195049974hg38UCSC Ensembl
Innerchr1:194919249..195019104hg19UCSC Ensembl
Innerchr1:193185872..193285727hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3899856
hg1999856
hg1899856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733902
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548702
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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