A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008458



Internal ID18750989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109097053..109231404hg38UCSC Ensembl
Innerchr1:109639675..109774026hg19UCSC Ensembl
Innerchr1:109441198..109575549hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38134352
hg19134352
hg18134352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496021
Samples
Known GenesC1orf194, KIAA1324, SARS, SCARNA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008458
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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