A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557735



Internal ID15998458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21290348..21386023hg38UCSC Ensembl
Innerchr12:21443282..21538957hg19UCSC Ensembl
Innerchr12:21334549..21430224hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3895676
hg1995676
hg1895676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789555
Samples
Known GenesIAPP, SLCO1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557735
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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