A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002301



Internal ID18744833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239018955..239611093hg38UCSC Ensembl
Innerchr1:239182255..239774393hg19UCSC Ensembl
Innerchr1:237248878..237841016hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38592139
hg19592139
hg18592139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501285
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)nsv1002301
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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