A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561575



Internal ID16348984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44468473..44468929hg38UCSC Ensembl
Innerchr13:45042609..45043065hg19UCSC Ensembl
Innerchr13:43940609..43941065hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38457
hg19457
hg18457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv810000, nssv810001, nssv809979, nssv810006, nssv809978, nssv809999, nssv809983, nssv809998, nssv809988, nssv809995, nssv809982, nssv809991, nssv809994, nssv810007, nssv809989, nssv810002, nssv810003, nssv810005, nssv809981, nssv809996, nssv809993, nssv809986, nssv809984, nssv809997, nssv809980, nssv809990, nssv809987, nssv810004, nssv809992, nssv809985
Samples
Known GenesTSC22D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561575
Frequency
Sample Size17421
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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