A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561552



Internal ID16002275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42747870..43104538hg38UCSC Ensembl
Innerchr13:43322006..43678674hg19UCSC Ensembl
Innerchr13:42220006..42576674hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38356669
hg19356669
hg18356669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv809958
Samples
Known GenesDNAJC15, EPSTI1, FAM216B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561552
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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