A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560769



Internal ID16001492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130916107..131621821hg38UCSC Ensembl
Innerchr12:131400652..132106366hg19UCSC Ensembl
Innerchr12:129966605..130672319hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38705715
hg19705715
hg18705715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv804578
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560769
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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