A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571763



Internal ID16359172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28602644..28609431hg38UCSC Ensembl
Innerchr16:28613965..28620752hg19UCSC Ensembl
Innerchr16:28521466..28528253hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386788
hg196788
hg186788
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4979n54
Supporting Variantsnssv855353, nssv855351, nssv855361, nssv855359, nssv855366, nssv855367, nssv855364, nssv855356, nssv855363, nssv855368, nssv855357, nssv855354, nssv855358, nssv855362, nssv855348, nssv855369, nssv855360, nssv855352, nssv855355, nssv855350, nssv855371, nssv855365, nssv855370, nssv855349
Samples
Known GenesSULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571763
Frequency
Sample Size17421
Observed Gain7
Observed Loss17
Observed Complex0
Frequencyn/a


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