A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052248



Internal ID19141467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30585774..30607880hg38UCSC Ensembl
Innerchr13:31159911..31182017hg19UCSC Ensembl
Innerchr13:30057911..30080017hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3822107
hg1922107
hg1822107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523219
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)nsv1052248
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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