A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011220



Internal ID19100437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194465125..195307187hg38UCSC Ensembl
Innerchr1:194434255..195276317hg19UCSC Ensembl
Innerchr1:192700878..193542940hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38842063
hg19842063
hg18842063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490976
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)nsv1011220
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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