A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557864



Internal ID15998587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27899261..28277169hg38UCSC Ensembl
Innerchr12:28052194..28430102hg19UCSC Ensembl
Innerchr12:27943461..28321369hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38377909
hg19377909
hg18377909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv790089
Samples
Known GenesCCDC91, PTHLH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557864
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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