A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560442



Internal ID16001165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120903520..120904063hg38UCSC Ensembl
Innerchr12:121341323..121341866hg19UCSC Ensembl
Innerchr12:119825706..119826249hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38544
hg19544
hg18544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803405
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560442
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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