A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571765



Internal ID16359174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28602644..28610911hg38UCSC Ensembl
Innerchr16:28613965..28622232hg19UCSC Ensembl
Innerchr16:28521466..28529733hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388268
hg198268
hg188268
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4979n54
Supporting Variantsnssv855401, nssv855402, nssv855399, nssv855400, nssv855398
Samples
Known GenesSULT1A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571765
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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