A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557611



Internal ID15998334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14484528..14494282hg38UCSC Ensembl
Innerchr12:14637462..14647216hg19UCSC Ensembl
Innerchr12:14528729..14538483hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg389755
hg199755
hg189755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788774
Samples
Known GenesATF7IP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557611
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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