A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571109



Internal ID16011832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1205545..1287716hg38UCSC Ensembl
Innerchr16:1255545..1337717hg19UCSC Ensembl
Innerchr16:1195546..1277718hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3882172
hg1982173
hg1882173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv851946
Samples
Known GenesCACNA1H, TPSAB1, TPSB2, TPSD1, TPSG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571109
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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