A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006030



Internal ID18748561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112618215..112736658hg38UCSC Ensembl
Innerchr4:113539371..113657814hg19UCSC Ensembl
Innerchr4:113758820..113877263hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38118444
hg19118444
hg18118444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3632705
Samples
Known GenesC4orf21, LARP7, MIR302A, MIR302B, MIR302C, MIR302D, MIR367
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006030
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer