A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564830



Internal ID16352239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48819161..48901800hg38UCSC Ensembl
Innerchr14:49288364..49371003hg19UCSC Ensembl
Innerchr14:48358114..48440753hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3882640
hg1982640
hg1882640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827862
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564830
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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