A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000293



Internal ID19089510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57901469..57963995hg38UCSC Ensembl
Innerchr4:58767635..58830161hg19UCSC Ensembl
Innerchr4:58462392..58524918hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3862527
hg1962527
hg1862527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739489
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)nsv1000293
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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