A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560443



Internal ID16001166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120903520..120904383hg38UCSC Ensembl
Innerchr12:121341323..121342186hg19UCSC Ensembl
Innerchr12:119825706..119826569hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38864
hg19864
hg18864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2916n54
Supporting Variantsnssv803406
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560443
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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