A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149281



Internal ID15529863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:828324..1202441hg38UCSC Ensembl
Innerchr16:878324..1252441hg19UCSC Ensembl
Innerchr16:818325..1192442hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38374118
hg19374118
hg18374118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571046
Supporting Variants
SamplesHGDP00860
Known GenesC1QTNF8, CACNA1H, LMF1, SOX8, SSTR5, SSTR5-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149281
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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