A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571764



Internal ID16359173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28602644..28609990hg38UCSC Ensembl
Innerchr16:28613965..28621311hg19UCSC Ensembl
Innerchr16:28521466..28528812hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387347
hg197347
hg187347
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4979n54
Supporting Variantsnssv855380, nssv855395, nssv855372, nssv855378, nssv855379, nssv855383, nssv855376, nssv855397, nssv855374, nssv855373, nssv855390, nssv855389, nssv855375, nssv855384, nssv855391, nssv855388, nssv855382, nssv855381, nssv855396, nssv855385, nssv855386, nssv855393, nssv855377, nssv855387, nssv855394, nssv855392
Samples
Known GenesSULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571764
Frequency
Sample Size17421
Observed Gain12
Observed Loss14
Observed Complex0
Frequencyn/a


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