A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548046



Internal ID16335455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159043114..159049312hg38UCSC Ensembl
Innerchr1:159012904..159019102hg19UCSC Ensembl
Innerchr1:157279528..157285726hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386199
hg196199
hg186199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv603n54
Supporting Variantsnssv726561
Samples
Known GenesIFI16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548046
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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