A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557332



Internal ID15998055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8168452..8446227hg38UCSC Ensembl
Innerchr12:8321048..8598823hg19UCSC Ensembl
Innerchr12:8212315..8490090hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38277776
hg19277776
hg18277776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2339n54
Supporting Variantsnssv787424
Samples
Known GenesFAM66C, FAM86FP, FAM90A1, LINC00937, ZNF705A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557332
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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