A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549300



Internal ID16336709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228718956..228783455hg38UCSC Ensembl
Innerchr1:228854703..228919202hg19UCSC Ensembl
Innerchr1:226921326..226985825hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3864500
hg1964500
hg1864500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737473
Samples
Known GenesRHOU
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549300
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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