A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557610



Internal ID15998333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14484528..14490576hg38UCSC Ensembl
Innerchr12:14637462..14643510hg19UCSC Ensembl
Innerchr12:14528729..14534777hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386049
hg196049
hg186049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2389n54
Supporting Variantsnssv788773
Samples
Known GenesATF7IP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557610
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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