A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558005



Internal ID16345414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30323255..30326937hg38UCSC Ensembl
Innerchr12:30476188..30479870hg19UCSC Ensembl
Innerchr12:30367455..30371137hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383683
hg193683
hg183683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2457n54
Supporting Variantsnssv791136
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558005
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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