A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556856



Internal ID15997579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:170292..218255hg38UCSC Ensembl
Innerchr12:279458..327421hg19UCSC Ensembl
Innerchr12:149719..197682hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3847964
hg1947964
hg1847964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176234
SamplesHGDP01011
Known GenesIQSEC3, SLC6A12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556856
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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