A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562412



Internal ID16349821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78601267..78603067hg38UCSC Ensembl
Innerchr13:79175402..79177202hg19UCSC Ensembl
Innerchr13:78073403..78075203hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381801
hg191801
hg181801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3269n54
Supporting Variantsnssv815908
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)nsv562412
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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