A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3613398



Internal ID18564993
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 StatusS
Merged Variantsnsv1014335
Supporting Variants
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)nssv3613398
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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