A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571427



Internal ID16012150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8746097..8808554hg38UCSC Ensembl
Innerchr16:8839954..8902411hg19UCSC Ensembl
Innerchr16:8747455..8809912hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3862458
hg1962458
hg1862458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150522
SamplesNINDS_146
Known GenesABAT, PMM2, TMEM186
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571427
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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