A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560918



Internal ID16001641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131701185..131725518hg38UCSC Ensembl
Innerchr12:132185730..132210063hg19UCSC Ensembl
Innerchr12:130751683..130776016hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824334
hg1924334
hg1824334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3007n54
Supporting Variantsnssv805365
Samples
Known GenesSFSWAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560918
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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