A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560448



Internal ID16001171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120903674..120926521hg38UCSC Ensembl
Innerchr12:121341477..121364324hg19UCSC Ensembl
Innerchr12:119825860..119848707hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3822848
hg1922848
hg1822848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2918n54
Supporting Variantsnssv803411
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560448
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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