A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014335



Internal ID18756869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9435268..10687720hg38UCSC Ensembl
Innerchr4:9436994..10689344hg19UCSC Ensembl
Innerchr4:9046092..10298442hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381252453
hg191252351
hg181252351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3613398
Samples
Known GenesCLNK, DEFB131, DRD5, LOC650293, MIR3138, MIR548I2, SLC2A9, WDR1, ZNF518B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014335
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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