A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565772



Internal ID16353181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99885488..99939420hg38UCSC Ensembl
Innerchr14:100351825..100405757hg19UCSC Ensembl
Innerchr14:99421578..99475510hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3853933
hg1953933
hg1853933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148977
Samples1780862077_A
Known GenesEML1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565772
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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