A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571808



Internal ID16012531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28958159..29032129hg38UCSC Ensembl
Innerchr16:28969480..29043450hg19UCSC Ensembl
Innerchr16:28876981..28950951hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3873971
hg1973971
hg1873971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149167
Samples1780862078_A
Known GenesLAT, MIR4517, NFATC2IP, SPNS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571808
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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