A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148914



Internal ID15532207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6346947..6651565hg38UCSC Ensembl
Innerchr16:6396948..6701566hg19UCSC Ensembl
Innerchr16:6336949..6641567hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38304619
hg19304619
hg18304619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571323
Supporting Variants
SamplesHGDP01275
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148914
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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