A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561221



Internal ID16001944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20227134..20475948hg38UCSC Ensembl
Innerchr13:20801273..21050087hg19UCSC Ensembl
Innerchr13:19699273..19948087hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38248815
hg19248815
hg18248815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3072n54
Supporting Variantsnssv806057
Samples
Known GenesCRYL1, GJB6, MIR4499
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561221
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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