A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557355



Internal ID15998078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9157399..9376419hg38UCSC Ensembl
Innerchr12:9309995..9529015hg19UCSC Ensembl
Innerchr12:9201262..9420282hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38219021
hg19219021
hg18219021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787457
Samples
Known GenesA2MP1, LINC00987, LOC642846, MIR1244-1, MIR1244-2, MIR1244-3, PZP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557355
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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