A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564191



Internal ID16351600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:33585737..33611702hg38UCSC Ensembl
Innerchr14:34054943..34080908hg19UCSC Ensembl
Innerchr14:33124694..33150659hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3825966
hg1925966
hg1825966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148945
Samples1782681093_A
Known GenesNPAS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564191
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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