A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557550



Internal ID16344959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11356361..11432446hg38UCSC Ensembl
Innerchr12:11509295..11585380hg19UCSC Ensembl
Innerchr12:11400562..11476647hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3876086
hg1976086
hg1876086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv790377
Samples
Known GenesPRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557550
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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