A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561613



Internal ID16002336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49439486..49512130hg38UCSC Ensembl
Innerchr13:50013622..50086266hg19UCSC Ensembl
Innerchr13:48911623..48984267hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3872645
hg1972645
hg1872645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv810364
Samples
Known GenesCAB39L, PHF11, SETDB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561613
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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