A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547983



Internal ID16335392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158525674..158553881hg38UCSC Ensembl
Innerchr1:158495464..158523671hg19UCSC Ensembl
Innerchr1:156762088..156790295hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3828208
hg1928208
hg1828208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173210
SamplesHGDP01088
Known GenesOR6Y1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547983
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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