A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149630



Internal ID15875713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21593859..21728953hg38UCSC Ensembl
Innerchr16:21605180..21740274hg19UCSC Ensembl
Innerchr16:21512681..21647775hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38135095
hg19135095
hg18135095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571633
Supporting Variants
SamplesHGDP00727
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149630
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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