A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561249



Internal ID16348658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:21153703..21155087hg38UCSC Ensembl
Innerchr13:21727842..21729226hg19UCSC Ensembl
Innerchr13:20625842..20627226hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381385
hg191385
hg181385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3077n54
Supporting Variantsnssv806163, nssv806160, nssv806161, nssv806164, nssv806166, nssv806167, nssv806165, nssv806168, nssv806169, nssv806170, nssv806162
Samples
Known GenesSKA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561249
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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