A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556843



Internal ID15997566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52082..77448hg38UCSC Ensembl
Innerchr12:161248..186614hg19UCSC Ensembl
Innerchr12:31509..56875hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825367
hg1925367
hg1825367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2240n54
Supporting Variantsnssv785825, nssv785824
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556843
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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