A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997450



Internal ID19156986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234662348..234702847hg38UCSC Ensembl
Innerchr1:234798094..234838594hg19UCSC Ensembl
Innerchr1:232864717..232905217hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3840500
hg1940501
hg1840501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3484074
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997450
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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