A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571183



Internal ID16011906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1965120..2020567hg38UCSC Ensembl
Innerchr16:2015121..2070568hg19UCSC Ensembl
Innerchr16:1955122..2010569hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3855448
hg1955448
hg1855448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4858n54
Supporting Variantsnssv1148898
SamplesHGDP00433
Known GenesGFER, NOXO1, NPW, RNF151, SNHG9, SNORA78, SYNGR3, TBL3, ZNF598
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571183
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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