A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561224



Internal ID16001947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20227134..20521581hg38UCSC Ensembl
Innerchr13:20801273..21095720hg19UCSC Ensembl
Innerchr13:19699273..19993720hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38294448
hg19294448
hg18294448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3072n54
Supporting Variantsnssv806061, nssv806062
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)nsv561224
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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