A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560153



Internal ID16000876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110281025..110281870hg38UCSC Ensembl
Innerchr12:110718830..110719675hg19UCSC Ensembl
Innerchr12:109203213..109204058hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38846
hg19846
hg18846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802001, nssv802000
Samples
Known GenesATP2A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560153
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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