A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571171



Internal ID16011894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1757779..1804539hg38UCSC Ensembl
Innerchr16:1807780..1854540hg19UCSC Ensembl
Innerchr16:1747781..1794541hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3846761
hg1946761
hg1846761
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852064, nssv852067, nssv852066, nssv852061, nssv852063, nssv852062, nssv852068, nssv852065
Samples
Known GenesEME2, IGFALS, MAPK8IP3, MRPS34, NME3, NUBP2, SPSB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571171
Frequency
Sample Size17421
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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