A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560929



Internal ID16001652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131819514..131855412hg38UCSC Ensembl
Innerchr12:132304059..132339957hg19UCSC Ensembl
Innerchr12:130870012..130905910hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3835899
hg1935899
hg1835899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805444
Samples
Known GenesMMP17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560929
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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