A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562411



Internal ID16349820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78601267..78602943hg38UCSC Ensembl
Innerchr13:79175402..79177078hg19UCSC Ensembl
Innerchr13:78073403..78075079hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381677
hg191677
hg181677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3269n54
Supporting Variantsnssv815907
Samples
Known GenesPOU4F1, RNF219-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562411
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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