A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031126



Internal ID18773659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142514198..143020006hg38UCSC Ensembl
Innerchr5:141893763..142399571hg19UCSC Ensembl
Innerchr5:141873947..142379764hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38505809
hg19505809
hg18505818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746646
Samples
Known GenesARHGAP26, ARHGAP26-AS1, FGF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031126
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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