A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556855



Internal ID15997578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:154673..226756hg38UCSC Ensembl
Innerchr12:263839..335922hg19UCSC Ensembl
Innerchr12:134100..206183hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3872084
hg1972084
hg1872084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv785837
Samples
Known GenesIQSEC3, SLC6A12, SLC6A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556855
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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