A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557259



Internal ID15997982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6770036..6806740hg38UCSC Ensembl
Innerchr12:6879202..6915906hg19UCSC Ensembl
Innerchr12:6749463..6786167hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3836705
hg1936705
hg1836705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2323n54
Supporting Variantsnssv787255
Samples
Known GenesCD4, LAG3, PTMS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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