A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv737477



Internal ID15684747
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549301
Supporting Variants
Samples
Known GenesTAF5L, URB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv737477
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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