A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012942



Internal ID19102159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144958180..145023143hg38UCSC Ensembl
Innerchr1:143982530..144050927hg19UCSC Ensembl
Innerchr1:142693888..142762284hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3864964
hg1968398
hg1868397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv312n100
Supporting Variantsnssv3493930
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)nsv1012942
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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