A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007479



Internal ID18750010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227508167..227796765hg38UCSC Ensembl
Innerchr1:227695868..227984466hg19UCSC Ensembl
Innerchr1:225762491..226051089hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38288599
hg19288599
hg18288599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3493501
Samples
Known GenesJMJD4, LOC100130093, SNAP47, ZNF678, ZNF847P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007479
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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