A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571753



Internal ID16359162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28598169..28611409hg38UCSC Ensembl
Innerchr16:28609490..28622730hg19UCSC Ensembl
Innerchr16:28516991..28530231hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813241
hg1913241
hg1813241
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4975n54
Supporting Variantsnssv855307, nssv855308
Samples
Known GenesSULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571753
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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