A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549301



Internal ID15990024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229625667..229626331hg38UCSC Ensembl
Innerchr1:229761414..229762078hg19UCSC Ensembl
Innerchr1:227828037..227828701hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38665
hg19665
hg18665
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737476, nssv737475, nssv737477, nssv737474
Samples
Known GenesTAF5L, URB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549301
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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