A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561614



Internal ID16002337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49468847..49512117hg38UCSC Ensembl
Innerchr13:50042983..50086253hg19UCSC Ensembl
Innerchr13:48940984..48984254hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3843271
hg1943271
hg1843271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3139n54
Supporting Variantsnssv810365
Samples
Known GenesPHF11, SETDB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561614
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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