A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546308



Internal ID16333717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58248755..58277827hg38UCSC Ensembl
Innerchr1:58714427..58743499hg19UCSC Ensembl
Innerchr1:58487015..58516087hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3829073
hg1929073
hg1829073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713486
Samples
Known GenesDAB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546308
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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