A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561222



Internal ID16001945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20227134..20489385hg38UCSC Ensembl
Innerchr13:20801273..21063524hg19UCSC Ensembl
Innerchr13:19699273..19961524hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38262252
hg19262252
hg18262252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3072n54
Supporting Variantsnssv806058
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)nsv561222
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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