A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560951



Internal ID16001674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132149020..132149927hg38UCSC Ensembl
Innerchr12:132633565..132634472hg19UCSC Ensembl
Innerchr12:131199518..131200425hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3016n54
Supporting Variantsnssv805472
Samples
Known GenesNOC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560951
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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