A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548047



Internal ID16335456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159043985..159048569hg38UCSC Ensembl
Innerchr1:159013775..159018359hg19UCSC Ensembl
Innerchr1:157280399..157284983hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384585
hg194585
hg184585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv603n54
Supporting Variantsnssv726562
Samples
Known GenesIFI16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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