A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571632



Internal ID16012355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21593859..21726305hg38UCSC Ensembl
Innerchr16:21605180..21737626hg19UCSC Ensembl
Innerchr16:21512681..21645127hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38132447
hg19132447
hg18132447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4947n54
Supporting Variantsnssv853104
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)nsv571632
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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