A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571743



Internal ID16012466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28597166..28708113hg38UCSC Ensembl
Innerchr16:28608487..28719434hg19UCSC Ensembl
Innerchr16:28515988..28626935hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38110948
hg19110948
hg18110948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4972n54
Supporting Variantsnssv855274
Samples
Known GenesEIF3C, SULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571743
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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