A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593231



Internal ID16380640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1010000..1014616hg38UCSC Ensembl
Innerchr4:1003788..1008404hg19UCSC Ensembl
Innerchr4:993788..998404hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987443
Samples
Known GenesFGFRL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593231
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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