A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560450



Internal ID16001173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120903726..120904437hg38UCSC Ensembl
Innerchr12:121341529..121342240hg19UCSC Ensembl
Innerchr12:119825912..119826623hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38712
hg19712
hg18712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803417, nssv803423, nssv803422, nssv803419, nssv803420, nssv803418, nssv803414, nssv803413, nssv803416, nssv803415, nssv803421
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560450
Frequency
Sample Size17421
Observed Gain9
Observed Loss2
Observed Complex0
Frequencyn/a


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