A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564183



Internal ID16351592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31714643..31772667hg38UCSC Ensembl
Innerchr14:32183849..32241873hg19UCSC Ensembl
Innerchr14:31253600..31311624hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3858025
hg1958025
hg1858025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148943
Samples1780862598_A
Known GenesNUBPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564183
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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