A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571102



Internal ID16011825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1084818..1257675hg38UCSC Ensembl
Innerchr16:1134818..1307676hg19UCSC Ensembl
Innerchr16:1074819..1247677hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38172858
hg19172859
hg18172859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv851939
Samples
Known GenesC1QTNF8, CACNA1H, TPSAB1, TPSB2, TPSD1, TPSG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571102
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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