A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571321



Internal ID16012044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6302722..6332433hg38UCSC Ensembl
Innerchr16:6352723..6382434hg19UCSC Ensembl
Innerchr16:6292724..6322435hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3829712
hg1929712
hg1829712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4886n54
Supporting Variantsnssv852359, nssv852358
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571321
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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