A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565993



Internal ID16353402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103520468..103523420hg38UCSC Ensembl
Innerchr14:103986805..103989757hg19UCSC Ensembl
Innerchr14:103056558..103059510hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg382953
hg192953
hg182953
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3941n54
Supporting Variantsnssv834347, nssv834346, nssv834345, nssv834344
Samples
Known GenesCKB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565993
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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