A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041938



Internal ID18784469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22930769..24316879hg38UCSC Ensembl
Innerchr13:23504908..24891017hg19UCSC Ensembl
Innerchr13:22402908..23789017hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381386111
hg191386110
hg181386110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1615n100
Supporting Variantsnssv3523148
Samples
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041938
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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