A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564839



Internal ID16005562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50562995..50654982hg38UCSC Ensembl
Innerchr14:51029713..51121700hg19UCSC Ensembl
Innerchr14:50099463..50191450hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3891988
hg1991988
hg1891988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827885
Samples
Known GenesATL1, SAV1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564839
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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