A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564835



Internal ID16005558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50024482..50439753hg38UCSC Ensembl
Innerchr14:50491200..50906471hg19UCSC Ensembl
Innerchr14:49560950..49976221hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38415272
hg19415272
hg18415272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827867
Samples
Known GenesATP5S, C14orf183, CDKL1, L2HGDH, LOC100506499, MAP4K5, SOS2, VCPKMT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564835
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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