A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549418



Internal ID16336827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238452566..238489668hg38UCSC Ensembl
Innerchr1:238615866..238652968hg19UCSC Ensembl
Innerchr1:236682489..236719591hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3837103
hg1937103
hg1837103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174069
SamplesHGDP00855
Known GenesLINC01139
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549418
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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