A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000211



Internal ID18742742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:59339925..60903760hg38UCSC Ensembl
Innerchr4:60205643..61769478hg19UCSC Ensembl
Innerchr4:59888238..61452073hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381563836
hg191563836
hg181563836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739493, nssv3626509
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000211
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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