A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571636



Internal ID16012359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21597151..21728953hg38UCSC Ensembl
Innerchr16:21608472..21740274hg19UCSC Ensembl
Innerchr16:21515973..21647775hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38131803
hg19131803
hg18131803
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4946n54
Supporting Variantsnssv853112, nssv853111, nssv853109, nssv853108, nssv853110
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571636
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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